Canonical Allele Identifier: CA1435773479
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301405_6301406delinsGC , CM000666.2:g.6301405_6301406delinsGC GRCh38
NC_000004.11:g.6303132_6303133delinsGC , CM000666.1:g.6303132_6303133delinsGC GRCh37
NC_000004.10:g.6354033_6354034delinsGC NCBI36
NG_011700.1:g.36556_36557delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1646_1647delinsGC ENSP00000507852.1:p.Cys549=
ENST00000683395.1:c.1587_1588delinsGC
ENST00000684087.1:c.1610_1611delinsGC ENSP00000506978.1:p.Cys537=
ENST00000506362.2:c.1361_1362delinsGC ENSP00000424103.2:p.Cys454=
ENST00000673642.1:c.1269_1270delinsGC ENSP00000501242.1:p.Val423=
ENST00000673991.1:c.1646_1647delinsGC ENSP00000501033.1:p.Cys549=
ENST00000226760.5:c.1610_1611delinsGC MANE Select ENSP00000226760.1:p.Cys537=
ENST00000503569.5:c.1610_1611delinsGC ENSP00000423337.1:p.Cys537=
ENST00000507765.1:n.1795_1796delinsGC
NM_001145853.1:c.1610_1611delinsGC NP_001139325.1:p.Cys537=
NM_006005.3:c.1610_1611delinsGC MANE Select NP_005996.2:p.Cys537=
XM_017008586.1:c.1619_1620delinsGC XP_016864075.1:p.Cys540=