Canonical Allele Identifier: CA2586973633

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2734644
• ClinVar RCV Id: RCV003555142

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301500_6301501delinsAG , CM000666.2:g.6301500_6301501delinsAG	GRCh38
NC_000004.11:g.6303227_6303228delinsAG , CM000666.1:g.6303227_6303228delinsAG	GRCh37
NC_000004.10:g.6354128_6354129delinsAG	NCBI36
NG_011700.1:g.36651_36652delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1741_1742delinsAG	ENSP00000507852.1:p.Ala581Ser
ENST00000683395.1:c.1682_1683delinsAG
ENST00000684087.1:c.1705_1706delinsAG	ENSP00000506978.1:p.Ala569Ser
ENST00000506362.2:c.1456_1457delinsAG	ENSP00000424103.2:p.Ala486Ser
ENST00000673642.1:c.1364_1365delinsAG	ENSP00000501242.1:n.1364_1365delinsAG
ENST00000673991.1:c.1741_1742delinsAG	ENSP00000501033.1:p.Ala581Ser
ENST00000226760.5:c.1705_1706delinsAG MANE Select	ENSP00000226760.1:p.Ala569Ser
ENST00000503569.5:c.1705_1706delinsAG	ENSP00000423337.1:p.Ala569Ser
ENST00000507765.1:n.1890_1891delinsAG
NM_001145853.1:c.1705_1706delinsAG	NP_001139325.1:p.Ala569Ser
NM_006005.3:c.1705_1706delinsAG MANE Select	NP_005996.2:p.Ala569Ser
XM_017008586.1:c.1714_1715delinsAG	XP_016864075.1:p.Ala572Ser