Canonical Allele Identifier: CA797211828

Gene: WFS1

Linked Data

• dbSNP Id: rs1276269023
• gnomAD v3: 4-6302579-CTG-C
• gnomAD v4: 4-6302579-CTG-C
• MyVariant Identifiers: chr4:g.6304307_6304308del (hg19) ; chr4:g.6302580_6302581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302582_6302583del , CM000666.2:g.6302582_6302583del	GRCh38
NC_000004.11:g.6304309_6304310del , CM000666.1:g.6304309_6304310del	GRCh37
NC_000004.10:g.6355210_6355211del	NCBI36
NG_011700.1:g.37733_37734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*114_*115del	ENSP00000507852.1:n.*114_*115del
ENST00000683395.1:c.2764_2765del
ENST00000684087.1:c.*114_*115del	ENSP00000506978.1:n.*114_*115del
ENST00000506362.2:c.*114_*115del	ENSP00000424103.2:n.*114_*115del
ENST00000673991.1:c.*114_*115del	ENSP00000501033.1:n.*114_*115del
ENST00000226760.5:c.*114_*115del MANE Select	ENSP00000226760.1:n.*114_*115del
ENST00000503569.5:c.*114_*115del	ENSP00000423337.1:n.*114_*115del
ENST00000507765.1:n.2972_2973del
NM_001145853.1:c.*114_*115del	NP_001139325.1:n.*114_*115del
NM_006005.3:c.*114_*115del MANE Select	NP_005996.2:n.*114_*115del
XM_017008586.1:c.*114_*115del	XP_016864075.1:n.*114_*115del