Canonical Allele Identifier: CA549423115

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1187198
• ClinVar RCV Id: RCV001546560
• dbSNP Id: rs1553876868
• gnomAD v2: 4-6292751-G-GGCAGGGGCA
• gnomAD v3: 4-6291024-G-GGCAGGGGCA
• gnomAD v4: 4-6291024-G-GGCAGGGGCA
• MyVariant Identifiers: chr4:g.6292751_6292752insGCAGGGGCA (hg19) ; chr4:g.6291024_6291025insGCAGGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291024_6291025insGCAGGGGCA , CM000666.2:g.6291024_6291025insGCAGGGGCA	GRCh38
NC_000004.11:g.6292751_6292752insGCAGGGGCA , CM000666.1:g.6292751_6292752insGCAGGGGCA	GRCh37
NC_000004.10:g.6343652_6343653insGCAGGGGCA	NCBI36
NG_011700.1:g.26175_26176insGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.461-173_461-172insGCAGGGGCA	ENSP00000507852.1:n.461-173_461-172insGCA...
ENST00000683395.1:c.451-173_451-172insGCAGGGGCA
ENST00000684087.1:c.461-173_461-172insGCAGGGGCA	ENSP00000506978.1:n.461-173_461-172insGCA...
ENST00000684700.1:c.461-173_461-172insGCAGGGGCA	ENSP00000507806.1:n.461-173_461-172insGCA...
ENST00000506362.2:c.212-173_212-172insGCAGGGGCA	ENSP00000424103.2:n.212-173_212-172insGCA...
ENST00000673642.1:c.260-173_260-172insGCAGGGGCA	ENSP00000501242.1:n.260-173_260-172insGCA...
ENST00000673991.1:c.461-173_461-172insGCAGGGGCA	ENSP00000501033.1:n.461-173_461-172insGCA...
ENST00000674051.1:c.335-173_335-172insGCAGGGGCA	ENSP00000501083.1:n.335-173_335-172insGCA...
ENST00000226760.5:c.461-173_461-172insGCAGGGGCA MANE Select	ENSP00000226760.1:n.461-173_461-172insGCA...
ENST00000503569.5:c.461-173_461-172insGCAGGGGCA	ENSP00000423337.1:n.461-173_461-172insGCA...
ENST00000506362.1:c.58-173_58-172insGCAGGGGCA
ENST00000507765.1:n.646-173_646-172insGCAGGGGCA
NM_001145853.1:c.461-173_461-172insGCAGGGGCA	NP_001139325.1:n.461-173_461-172insGCAGGG...
NM_006005.3:c.461-173_461-172insGCAGGGGCA MANE Select	NP_005996.2:n.461-173_461-172insGCAGGGGCA...
XM_017008586.1:c.470-173_470-172insGCAGGGGCA	XP_016864075.1:n.470-173_470-172insGCAGGG...