Canonical Allele Identifier: CA2580071777

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2018930
• ClinVar RCV Id: RCV002870937

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301465_6301466insA , CM000666.2:g.6301465_6301466insA	GRCh38
NC_000004.11:g.6303192_6303193insA , CM000666.1:g.6303192_6303193insA	GRCh37
NC_000004.10:g.6354093_6354094insA	NCBI36
NG_011700.1:g.36616_36617insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1706_1707insA	ENSP00000507852.1:p.Arg570ProfsTer?
ENST00000683395.1:c.1647_1648insA
ENST00000684087.1:c.1670_1671insA	ENSP00000506978.1:p.Arg558ProfsTer?
ENST00000506362.2:c.1421_1422insA	ENSP00000424103.2:p.Arg475ProfsTer?
ENST00000673642.1:c.1329_1330insA	ENSP00000501242.1:n.1329_1330insA
ENST00000673991.1:c.1706_1707insA	ENSP00000501033.1:p.Arg570ProfsTer?
ENST00000226760.5:c.1670_1671insA MANE Select	ENSP00000226760.1:p.Arg558ProfsTer?
ENST00000503569.5:c.1670_1671insA	ENSP00000423337.1:p.Arg558ProfsTer?
ENST00000507765.1:n.1855_1856insA
NM_001145853.1:c.1670_1671insA	NP_001139325.1:p.Arg558ProfsTer?
NM_006005.3:c.1670_1671insA MANE Select	NP_005996.2:p.Arg558ProfsTer?
XM_017008586.1:c.1679_1680insA	XP_016864075.1:p.Arg561ProfsTer?