Canonical Allele Identifier: CA549707896

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2779094
• ClinVar RCV Id: RCV003663395
• dbSNP Id: rs1319792525
• gnomAD v2: 4-6302608-C-CA
• gnomAD v3: 4-6300881-C-CA
• gnomAD v4: 4-6300881-C-CA
• MyVariant Identifiers: chr4:g.6302608_6302609insA (hg19) ; chr4:g.6300881_6300882insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300883dup , CM000666.2:g.6300883dup	GRCh38
NC_000004.11:g.6302610dup , CM000666.1:g.6302610dup	GRCh37
NC_000004.10:g.6353511dup	NCBI36
NG_011700.1:g.36034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1124dup	ENSP00000507852.1:p.Val376GlyfsTer?
ENST00000683395.1:c.1065dup
ENST00000684087.1:c.1088dup	ENSP00000506978.1:p.Val364GlyfsTer?
ENST00000506362.2:c.839dup	ENSP00000424103.2:p.Val281GlyfsTer?
ENST00000673642.1:c.747dup	ENSP00000501242.1:p.Gly250ArgfsTer?
ENST00000673991.1:c.1124dup	ENSP00000501033.1:p.Val376GlyfsTer?
ENST00000226760.5:c.1088dup MANE Select	ENSP00000226760.1:p.Val364GlyfsTer?
ENST00000503569.5:c.1088dup	ENSP00000423337.1:p.Val364GlyfsTer?
ENST00000506362.1:c.721dup
ENST00000507765.1:n.1273dup
NM_001145853.1:c.1088dup	NP_001139325.1:p.Val364GlyfsTer?
NM_006005.3:c.1088dup MANE Select	NP_005996.2:p.Val364GlyfsTer?
XM_017008586.1:c.1097dup	XP_016864075.1:p.Val367GlyfsTer?