Canonical Allele Identifier: CA2839420

Gene: WFS1

Linked Data

• dbSNP Id: rs749058659
• ExAC: 4:6303132 GC / G
• gnomAD v2: 4-6303132-GC-G
• gnomAD v4: 4-6301405-GC-G
• MyVariant Identifiers: chr4:g.6303133del (hg19) ; chr4:g.6301406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301406del , CM000666.2:g.6301406del	GRCh38
NC_000004.11:g.6303133del , CM000666.1:g.6303133del	GRCh37
NC_000004.10:g.6354034del	NCBI36
NG_011700.1:g.36557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1647del	ENSP00000507852.1:p.Phe550SerfsTer?
ENST00000683395.1:c.1588del
ENST00000684087.1:c.1611del	ENSP00000506978.1:p.Phe538SerfsTer?
ENST00000506362.2:c.1362del	ENSP00000424103.2:p.Phe455SerfsTer?
ENST00000673642.1:c.1270del	ENSP00000501242.1:p.Leu424PhefsTer?
ENST00000673991.1:c.1647del	ENSP00000501033.1:p.Phe550SerfsTer?
ENST00000226760.5:c.1611del MANE Select	ENSP00000226760.1:p.Phe538SerfsTer?
ENST00000503569.5:c.1611del	ENSP00000423337.1:p.Phe538SerfsTer?
ENST00000507765.1:n.1796del
NM_001145853.1:c.1611del	NP_001139325.1:p.Phe538SerfsTer?
NM_006005.3:c.1611del MANE Select	NP_005996.2:p.Phe538SerfsTer?
XM_017008586.1:c.1620del	XP_016864075.1:p.Phe541SerfsTer?