WormBase Tree Display for Variation: WBVar00241028
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| WBVar00241028 | Evidence | Paper_evidence | WBPaper00005045 | ||
|---|---|---|---|---|---|
| Name | Public_name | q182 | |||
| Other_name | CE27480:p.Ala376_Thr392del | ||||
| CE27479:p.Ala162_Thr178del | |||||
| Y54E10A.4b.1:c.1126_1176del | |||||
| CE50301:p.Ala107_Thr123del | |||||
| Y54E10A.4c.1:c.319_369del | |||||
| Y54E10A.4a.2:c.484_534del | |||||
| Y54E10A.4a.1:c.484_534del | |||||
| HGVSg | CHROMOSOME_I:g.3214261_3214311del | ||||
| Sequence_details | SMap | S_parent | Sequence | Y54E10A | |
| Flanking_sequences | actttcgaacgggattctgcgtttaatagg | gttagttactcaaaatgcctctttttcatt | |||
| Mapping_target | Y54E10A | ||||
| Type_of_mutation | Deletion | ||||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Laboratory | JK | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00001481 | |||
| Transcript | Y54E10A.4a.1 | VEP_consequence | inframe_deletion,splice_region_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | Y54E10A.4a.1:c.484_534del | ||||
| HGVSp | CE27479:p.Ala162_Thr178del | ||||
| cDNA_position | 1138-1188 | ||||
| CDS_position | 484-534 | ||||
| Protein_position | 162-178 | ||||
| Exon_number | 8/11 | ||||
| Codon_change | GCACTGGAGAAGAAATTCCTGAAATTCGACAATATCGATTCGAGCAAGACG/- | ||||
| Amino_acid_change | ALEKKFLKFDNIDSSKT/- | ||||
| Y54E10A.4c.1 | VEP_consequence | inframe_deletion,splice_region_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | Y54E10A.4c.1:c.319_369del | ||||
| HGVSp | CE50301:p.Ala107_Thr123del | ||||
| cDNA_position | 319-369 | ||||
| CDS_position | 319-369 | ||||
| Protein_position | 107-123 | ||||
| Exon_number | 2/4 | ||||
| Codon_change | GCACTGGAGAAGAAATTCCTGAAATTCGACAATATCGATTCGAGCAAGACG/- | ||||
| Amino_acid_change | ALEKKFLKFDNIDSSKT/- | ||||
| Y54E10A.4b.1 | VEP_consequence | inframe_deletion,splice_region_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | Y54E10A.4b.1:c.1126_1176del | ||||
| HGVSp | CE27480:p.Ala376_Thr392del | ||||
| cDNA_position | 1138-1188 | ||||
| CDS_position | 1126-1176 | ||||
| Protein_position | 376-392 | ||||
| Exon_number | 8/10 | ||||
| Codon_change | GCACTGGAGAAGAAATTCCTGAAATTCGACAATATCGATTCGAGCAAGACG/- | ||||
| Amino_acid_change | ALEKKFLKFDNIDSSKT/- | ||||
| Y54E10A.4a.2 | VEP_consequence | inframe_deletion,splice_region_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | Y54E10A.4a.2:c.484_534del | ||||
| HGVSp | CE27479:p.Ala162_Thr178del | ||||
| cDNA_position | 612-662 | ||||
| CDS_position | 484-534 | ||||
| Protein_position | 162-178 | ||||
| Exon_number | 4/7 | ||||
| Codon_change | GCACTGGAGAAGAAATTCCTGAAATTCGACAATATCGATTCGAGCAAGACG/- | ||||
| Amino_acid_change | ALEKKFLKFDNIDSSKT/- | ||||
| Isolation | Mutagen | EMS | Paper_evidence | WBPaper00005045 | |
| Genetics | Interpolated_map_position | I | -4.47282 | ||
| Reference | WBPaper00005045 | ||||
| Method | Deletion_allele |
