Canonical Allele Identifier: CA1435773840
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301519_6301521delinsCCG , CM000666.2:g.6301519_6301521delinsCCG GRCh38
NC_000004.11:g.6303246_6303248delinsCCG , CM000666.1:g.6303246_6303248delinsCCG GRCh37
NC_000004.10:g.6354147_6354149delinsCCG NCBI36
NG_011700.1:g.36670_36672delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1760_1762delinsCCG ENSP00000507852.1:p.Ala587=
ENST00000683395.1:c.1701_1703delinsCCG
ENST00000684087.1:c.1724_1726delinsCCG ENSP00000506978.1:p.Ala575=
ENST00000506362.2:c.1475_1477delinsCCG ENSP00000424103.2:p.Ala492=
ENST00000673642.1:c.1383_1385delinsCCG ENSP00000501242.1:n.1383_1385delinsCCG
ENST00000673991.1:c.1760_1762delinsCCG ENSP00000501033.1:p.Ala587=
ENST00000226760.5:c.1724_1726delinsCCG MANE Select ENSP00000226760.1:p.Ala575=
ENST00000503569.5:c.1724_1726delinsCCG ENSP00000423337.1:p.Ala575=
ENST00000507765.1:n.1909_1911delinsCCG
NM_001145853.1:c.1724_1726delinsCCG NP_001139325.1:p.Ala575=
NM_006005.3:c.1724_1726delinsCCG MANE Select NP_005996.2:p.Ala575=
XM_017008586.1:c.1733_1735delinsCCG XP_016864075.1:p.Ala578=