Canonical Allele Identifier: CA2580071779

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2156690
• ClinVar RCV Id: RCV003075593

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301627_6301628delinsAT , CM000666.2:g.6301627_6301628delinsAT	GRCh38
NC_000004.11:g.6303354_6303355delinsAT , CM000666.1:g.6303354_6303355delinsAT	GRCh37
NC_000004.10:g.6354255_6354256delinsAT	NCBI36
NG_011700.1:g.36778_36779delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1868_1869delinsAT	ENSP00000507852.1:p.Arg623His
ENST00000683395.1:c.1809_1810delinsAT
ENST00000684087.1:c.1832_1833delinsAT	ENSP00000506978.1:p.Arg611His
ENST00000506362.2:c.1583_1584delinsAT	ENSP00000424103.2:p.Arg528His
ENST00000673642.1:c.1491_1492delinsAT	ENSP00000501242.1:n.1491_1492delinsAT
ENST00000673991.1:c.1868_1869delinsAT	ENSP00000501033.1:p.Arg623His
ENST00000226760.5:c.1832_1833delinsAT MANE Select	ENSP00000226760.1:p.Arg611His
ENST00000503569.5:c.1832_1833delinsAT	ENSP00000423337.1:p.Arg611His
ENST00000507765.1:n.2017_2018delinsAT
NM_001145853.1:c.1832_1833delinsAT	NP_001139325.1:p.Arg611His
NM_006005.3:c.1832_1833delinsAT MANE Select	NP_005996.2:p.Arg611His
XM_017008586.1:c.1841_1842delinsAT	XP_016864075.1:p.Arg614His