WormBase Tree Display for Variation: WBVar02126012
expand all nodes | collapse all nodes | view schema
| WBVar02126012 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h4843 | ||||
| Other_name | CE49295:p.Asp530GlufsTer27 | |||||
| Y18H1A.3e.1:c.3680_3681insG | ||||||
| Y18H1A.3a.1:c.3326_3327insG | ||||||
| Y18H1A.3c.1:c.2006_2007insG | ||||||
| Y18H1A.3b.1:c.1589_1590insG | ||||||
| CE49407:p.Asp888GlufsTer27 | ||||||
| CE49321:p.Asp669GlufsTer27 | ||||||
| Y18H1A.3d.1:c.2663_2664insG | ||||||
| CE52673:p.Asp1109GlufsTer27 | ||||||
| CE49164:p.Asp1227GlufsTer27 | ||||||
| HGVSg | CHROMOSOME_I:g.701843_701844insC | |||||
| Sequence_details | SMap | S_parent | Sequence | Y18H1A | ||
| Flanking_sequences | TCCGTCGAAAAGCGGCCCAAACTCCAGAGCCGACGCCGTA | TCGACGCGCACTCGAACCATCTGAAAAACCAAATAATGGA | ||||
| Mapping_target | CHROMOSOME_I | |||||
| Source_location | 200 | CHROMOSOME_I | 701846 | 701847 | ||
| Type_of_mutation | Insertion | C | ||||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023661 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00021209 | ||||
| Transcript | Y18H1A.3c.1 | VEP_consequence | frameshift_variant | |||
| VEP_impact | HIGH | |||||
| HGVSc | Y18H1A.3c.1:c.2006_2007insG | |||||
| HGVSp | CE49321:p.Asp669GlufsTer27 | |||||
| cDNA_position | 2006-2007 | |||||
| CDS_position | 2006-2007 | |||||
| Protein_position | 669 | |||||
| Exon_number | 4/5 | |||||
| Codon_change | gat/gaGt | |||||
| Amino_acid_change | D/EX | |||||
| Y18H1A.3a.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | |||||
| HGVSc | Y18H1A.3a.1:c.3326_3327insG | |||||
| HGVSp | CE52673:p.Asp1109GlufsTer27 | |||||
| cDNA_position | 3704-3705 | |||||
| CDS_position | 3326-3327 | |||||
| Protein_position | 1109 | |||||
| Exon_number | 11/13 | |||||
| Codon_change | gat/gaGt | |||||
| Amino_acid_change | D/EX | |||||
| Y18H1A.3d.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | |||||
| HGVSc | Y18H1A.3d.1:c.2663_2664insG | |||||
| HGVSp | CE49407:p.Asp888GlufsTer27 | |||||
| cDNA_position | 2663-2664 | |||||
| CDS_position | 2663-2664 | |||||
| Protein_position | 888 | |||||
| Exon_number | 6/7 | |||||
| Codon_change | gat/gaGt | |||||
| Amino_acid_change | D/EX | |||||
| Y18H1A.3e.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | |||||
| HGVSc | Y18H1A.3e.1:c.3680_3681insG | |||||
| HGVSp | CE49164:p.Asp1227GlufsTer27 | |||||
| cDNA_position | 3705-3706 | |||||
| CDS_position | 3680-3681 | |||||
| Protein_position | 1227 | |||||
| Exon_number | 11/12 | |||||
| Codon_change | gat/gaGt | |||||
| Amino_acid_change | D/EX | |||||
| Y18H1A.3b.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | |||||
| HGVSc | Y18H1A.3b.1:c.1589_1590insG | |||||
| HGVSp | CE49295:p.Asp530GlufsTer27 | |||||
| cDNA_position | 1589-1590 | |||||
| CDS_position | 1589-1590 | |||||
| Protein_position | 530 | |||||
| Exon_number | 2/3 | |||||
| Codon_change | gat/gaGt | |||||
| Amino_acid_change | D/EX | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
