Canonical Allele Identifier: CA1058892966

Gene: WFS1

Linked Data

• dbSNP Id: rs1730980688
• gnomAD v3: 4-6302432-CGACT-C
• gnomAD v4: 4-6302432-CGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302433_6302436del , CM000666.2:g.6302433_6302436del	GRCh38
NC_000004.11:g.6304160_6304163del , CM000666.1:g.6304160_6304163del	GRCh37
NC_000004.10:g.6355061_6355064del	NCBI36
NG_011700.1:g.37584_37587del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2674_2677del	ENSP00000507852.1:p.Asp892SerfsTer?
ENST00000683395.1:c.2615_2618del
ENST00000684087.1:c.2638_2641del	ENSP00000506978.1:p.Asp880SerfsTer?
ENST00000506362.2:c.2389_2392del	ENSP00000424103.2:p.Asp797SerfsTer?
ENST00000673991.1:c.2674_2677del	ENSP00000501033.1:p.Asp892SerfsTer?
ENST00000226760.5:c.2638_2641del MANE Select	ENSP00000226760.1:p.Asp880SerfsTer?
ENST00000503569.5:c.2638_2641del	ENSP00000423337.1:p.Asp880SerfsTer?
ENST00000507765.1:n.2823_2826del
NM_001145853.1:c.2638_2641del	NP_001139325.1:p.Asp880SerfsTer?
NM_006005.3:c.2638_2641del MANE Select	NP_005996.2:p.Asp880SerfsTer?
XM_017008586.1:c.2647_2650del	XP_016864075.1:p.Asp883SerfsTer?