Canonical Allele Identifier: CA91794546

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1182924
• ClinVar RCV Id: RCV001540661
• dbSNP Id: rs200036639
• gnomAD v2: 4-6292746-T-TGGGCGTGGCAG
• gnomAD v3: 4-6291019-T-TGGGCGTGGCAG
• gnomAD v4: 4-6291019-T-TGGGCGTGGCAG
• MyVariant Identifiers: chr4:g.6292755_6292756insAGGGGCGTGGC (hg19) ; chr4:g.6292746_6292747insGGGCGTGGCAG (hg19) ; chr4:g.6291028_6291029insAGGGGCGTGGC (hg38) ; chr4:g.6291019_6291020insGGGCGTGGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291028_6291029insAGGGGCGTGGC , CM000666.2:g.6291028_6291029insAGGGGCGTGGC	GRCh38
NC_000004.11:g.6292755_6292756insAGGGGCGTGGC , CM000666.1:g.6292755_6292756insAGGGGCGTGGC	GRCh37
NC_000004.10:g.6343656_6343657insAGGGGCGTGGC	NCBI36
NG_011700.1:g.26179_26180insAGGGGCGTGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.461-169_461-168insAGGGGCGTGGC	ENSP00000507852.1:n.461-169_461-168insAGG...
ENST00000683395.1:c.451-169_451-168insAGGGGCGTGGC
ENST00000684087.1:c.461-169_461-168insAGGGGCGTGGC	ENSP00000506978.1:n.461-169_461-168insAGG...
ENST00000684700.1:c.461-169_461-168insAGGGGCGTGGC	ENSP00000507806.1:n.461-169_461-168insAGG...
ENST00000506362.2:c.212-169_212-168insAGGGGCGTGGC	ENSP00000424103.2:n.212-169_212-168insAGG...
ENST00000673642.1:c.260-169_260-168insAGGGGCGTGGC	ENSP00000501242.1:n.260-169_260-168insAGG...
ENST00000673991.1:c.461-169_461-168insAGGGGCGTGGC	ENSP00000501033.1:n.461-169_461-168insAGG...
ENST00000674051.1:c.335-169_335-168insAGGGGCGTGGC	ENSP00000501083.1:n.335-169_335-168insAGG...
ENST00000226760.5:c.461-169_461-168insAGGGGCGTGGC MANE Select	ENSP00000226760.1:n.461-169_461-168insAGG...
ENST00000503569.5:c.461-169_461-168insAGGGGCGTGGC	ENSP00000423337.1:n.461-169_461-168insAGG...
ENST00000506362.1:c.58-169_58-168insAGGGGCGTGGC
ENST00000507765.1:n.646-169_646-168insAGGGGCGTGGC
NM_001145853.1:c.461-169_461-168insAGGGGCGTGGC	NP_001139325.1:n.461-169_461-168insAGGGGC...
NM_006005.3:c.461-169_461-168insAGGGGCGTGGC MANE Select	NP_005996.2:n.461-169_461-168insAGGGGCGTG...
XM_017008586.1:c.470-169_470-168insAGGGGCGTGGC	XP_016864075.1:n.470-169_470-168insAGGGGC...