Canonical Allele Identifier: CA797211390

Gene: WFS1

Linked Data

• ClinVar Variation Id: 807720
• ClinVar RCV Id: RCV000995913 ; RCV002550684
• dbSNP Id: rs1272826809
• gnomAD v3: 4-6302428-CCTTCGA-C
• gnomAD v4: 4-6302428-CCTTCGA-C
• MyVariant Identifiers: chr4:g.6304156_6304161del (hg19) ; chr4:g.6302429_6302434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302433_6302438del , CM000666.2:g.6302433_6302438del	GRCh38
NC_000004.11:g.6304160_6304165del , CM000666.1:g.6304160_6304165del	GRCh37
NC_000004.10:g.6355061_6355066del	NCBI36
NG_011700.1:g.37584_37589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2674_2679del	ENSP00000507852.1:p.Asp892_Phe893del
ENST00000683395.1:c.2615_2620del
ENST00000684087.1:c.2638_2643del	ENSP00000506978.1:p.Asp880_Phe881del
ENST00000506362.2:c.2389_2394del	ENSP00000424103.2:p.Asp797_Phe798del
ENST00000673991.1:c.2674_2679del	ENSP00000501033.1:p.Asp892_Phe893del
ENST00000226760.5:c.2638_2643del MANE Select	ENSP00000226760.1:p.Asp880_Phe881del
ENST00000503569.5:c.2638_2643del	ENSP00000423337.1:p.Asp880_Phe881del
ENST00000507765.1:n.2823_2828del
NM_001145853.1:c.2638_2643del	NP_001139325.1:p.Asp880_Phe881del
NM_006005.3:c.2638_2643del MANE Select	NP_005996.2:p.Asp880_Phe881del
XM_017008586.1:c.2647_2652del	XP_016864075.1:p.Asp883_Phe884del