Canonical Allele Identifier: CA2760285093
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301294_6301295insTACT , CM000666.2:g.6301294_6301295insTACT GRCh38
NC_000004.11:g.6303021_6303022insTACT , CM000666.1:g.6303021_6303022insTACT GRCh37
NC_000004.10:g.6353922_6353923insTACT NCBI36
NG_011700.1:g.36445_36446insTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1535_1536insTACT ENSP00000507852.1:p.Val513ThrfsTer?
ENST00000683395.1:c.1476_1477insTACT
ENST00000684087.1:c.1499_1500insTACT ENSP00000506978.1:p.Val501ThrfsTer?
ENST00000506362.2:c.1250_1251insTACT ENSP00000424103.2:p.Val418ThrfsTer?
ENST00000673642.1:c.1158_1159insTACT ENSP00000501242.1:p.Arg387TyrfsTer23
ENST00000673991.1:c.1535_1536insTACT ENSP00000501033.1:p.Val513ThrfsTer?
ENST00000226760.5:c.1499_1500insTACT MANE Select ENSP00000226760.1:p.Val501ThrfsTer?
ENST00000503569.5:c.1499_1500insTACT ENSP00000423337.1:p.Val501ThrfsTer?
ENST00000507765.1:n.1684_1685insTACT
NM_001145853.1:c.1499_1500insTACT NP_001139325.1:p.Val501ThrfsTer?
NM_006005.3:c.1499_1500insTACT MANE Select NP_005996.2:p.Val501ThrfsTer?
XM_017008586.1:c.1508_1509insTACT XP_016864075.1:p.Val504ThrfsTer?