Canonical Allele Identifier: CA2760284853
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301032_6301033insAG , CM000666.2:g.6301032_6301033insAG GRCh38
NC_000004.11:g.6302759_6302760insAG , CM000666.1:g.6302759_6302760insAG GRCh37
NC_000004.10:g.6353660_6353661insAG NCBI36
NG_011700.1:g.36183_36184insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1273_1274insAG ENSP00000507852.1:p.Phe425Ter
ENST00000683395.1:c.1214_1215insAG
ENST00000684087.1:c.1237_1238insAG ENSP00000506978.1:p.Phe413Ter
ENST00000506362.2:c.988_989insAG ENSP00000424103.2:p.Phe330Ter
ENST00000673642.1:c.896_897insAG ENSP00000501242.1:p.Leu300ValfsTer?
ENST00000673991.1:c.1273_1274insAG ENSP00000501033.1:p.Phe425Ter
ENST00000226760.5:c.1237_1238insAG MANE Select ENSP00000226760.1:p.Phe413Ter
ENST00000503569.5:c.1237_1238insAG ENSP00000423337.1:p.Phe413Ter
ENST00000507765.1:n.1422_1423insAG
NM_001145853.1:c.1237_1238insAG NP_001139325.1:p.Phe413Ter
NM_006005.3:c.1237_1238insAG MANE Select NP_005996.2:p.Phe413Ter
XM_017008586.1:c.1246_1247insAG XP_016864075.1:p.Phe416Ter