Canonical Allele Identifier: CA2695199363

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2631364
• ClinVar RCV Id: RCV004528017

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301331_6301344dup , CM000666.2:g.6301331_6301344dup	GRCh38
NC_000004.11:g.6303058_6303071dup , CM000666.1:g.6303058_6303071dup	GRCh37
NC_000004.10:g.6353959_6353972dup	NCBI36
NG_011700.1:g.36482_36495dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1572_1585dup	ENSP00000507852.1:p.Arg529ProfsTer10
ENST00000683395.1:c.1513_1526dup
ENST00000684087.1:c.1536_1549dup	ENSP00000506978.1:p.Arg517ProfsTer10
ENST00000506362.2:c.1287_1300dup	ENSP00000424103.2:p.Arg434ProfsTer10
ENST00000673642.1:c.1195_1208dup	ENSP00000501242.1:p.His404TyrfsTer?
ENST00000673991.1:c.1572_1585dup	ENSP00000501033.1:p.Arg529ProfsTer10
ENST00000226760.5:c.1536_1549dup MANE Select	ENSP00000226760.1:p.Arg517ProfsTer10
ENST00000503569.5:c.1536_1549dup	ENSP00000423337.1:p.Arg517ProfsTer10
ENST00000507765.1:n.1721_1734dup
NM_001145853.1:c.1536_1549dup	NP_001139325.1:p.Arg517ProfsTer10
NM_006005.3:c.1536_1549dup MANE Select	NP_005996.2:p.Arg517ProfsTer10
XM_017008586.1:c.1545_1558dup	XP_016864075.1:p.Arg520ProfsTer10