Canonical Allele Identifier: CA1435772290
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300853_6300856delinsCCTT , CM000666.2:g.6300853_6300856delinsCCTT GRCh38
NC_000004.11:g.6302580_6302583delinsCCTT , CM000666.1:g.6302580_6302583delinsCCTT GRCh37
NC_000004.10:g.6353481_6353484delinsCCTT NCBI36
NG_011700.1:g.36004_36007delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1094_1097delinsCCTT ENSP00000507852.1:p.Ser365=
ENST00000683395.1:c.1035_1038delinsCCTT
ENST00000684087.1:c.1058_1061delinsCCTT ENSP00000506978.1:p.Ser353=
ENST00000506362.2:c.809_812delinsCCTT ENSP00000424103.2:p.Ser270=
ENST00000673642.1:c.717_720delinsCCTT ENSP00000501242.1:p.Val239=
ENST00000673991.1:c.1094_1097delinsCCTT ENSP00000501033.1:p.Ser365=
ENST00000226760.5:c.1058_1061delinsCCTT MANE Select ENSP00000226760.1:p.Ser353=
ENST00000503569.5:c.1058_1061delinsCCTT ENSP00000423337.1:p.Ser353=
ENST00000506362.1:c.691_694delinsCCTT
ENST00000507765.1:n.1243_1246delinsCCTT
NM_001145853.1:c.1058_1061delinsCCTT NP_001139325.1:p.Ser353=
NM_006005.3:c.1058_1061delinsCCTT MANE Select NP_005996.2:p.Ser353=
XM_017008586.1:c.1067_1070delinsCCTT XP_016864075.1:p.Ser356=