WormBase Tree Display for Variation: WBVar00143789
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WBVar00143789 | Evidence | Paper_evidence | WBPaper00041308 | |||
---|---|---|---|---|---|---|
Name | Public_name | e1162 | ||||
Other_name | CE45344:p.Ala347GlyfsTer11 | |||||
C27H6.1a.1:c.1038dup | ||||||
CE45373:p.Ala65GlyfsTer11 | ||||||
C27H6.1b.1:c.192dup | ||||||
HGVSg | CHROMOSOME_V:g.9972073dup | |||||
Sequence_details | SMap | S_parent | Sequence | C27H6 | ||
Flanking_sequences | ATAACATCACCAGATGCACCACACCAAGGG | GTAAGTAAGCTCATTTCTTTCGTTTCGGTT | ||||
Mapping_target | C27H6 | |||||
Type_of_mutation | Insertion | g | Paper_evidence | WBPaper00041308 | ||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin (3) | ||||||
Affects | Gene | WBGene00006777 | ||||
Transcript | C27H6.1b.1 | VEP_consequence | frameshift_variant,splice_region_variant | |||
VEP_impact | HIGH | |||||
HGVSc | C27H6.1b.1:c.192dup | |||||
HGVSp | CE45373:p.Ala65GlyfsTer11 | |||||
cDNA_position | 192-193 | |||||
CDS_position | 192-193 | |||||
Protein_position | 64-65 | |||||
Codon_change | -/G | |||||
Amino_acid_change | -/X | |||||
C27H6.1a.1 | VEP_consequence | frameshift_variant,splice_region_variant | ||||
VEP_impact | HIGH | |||||
HGVSc | C27H6.1a.1:c.1038dup | |||||
HGVSp | CE45344:p.Ala347GlyfsTer11 | |||||
cDNA_position | 1050-1051 | |||||
CDS_position | 1038-1039 | |||||
Protein_position | 346-347 | |||||
Codon_change | -/G | |||||
Amino_acid_change | -/X | |||||
Genetics | Gene_class | unc | ||||
Interpolated_map_position | V | 2.2235 | ||||
Description (2) | ||||||
Reference | WBPaper00041308 | |||||
WBPaper00002007 | ||||||
WBPaper00014640 | ||||||
WBPaper00061430 | ||||||
Remark (2) | ||||||
Method | Insertion_allele |