Canonical Allele Identifier: CA91794549

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1232146
• ClinVar RCV Id: RCV001612778
• dbSNP Id: rs6148286
• gnomAD v2: 4-6292751-G-GTGGCAGGGGCA
• gnomAD v3: 4-6291024-G-GTGGCAGGGGCA
• gnomAD v4: 4-6291024-G-GTGGCAGGGGCA
• MyVariant Identifiers: chr4:g.6292755_6292756insAGGGGCATGGC (hg19) ; chr4:g.6292751_6292752insTGGCAGGGGCA (hg19) ; chr4:g.6291028_6291029insAGGGGCATGGC (hg38) ; chr4:g.6291024_6291025insTGGCAGGGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291028_6291029insAGGGGCATGGC , CM000666.2:g.6291028_6291029insAGGGGCATGGC	GRCh38
NC_000004.11:g.6292755_6292756insAGGGGCATGGC , CM000666.1:g.6292755_6292756insAGGGGCATGGC	GRCh37
NC_000004.10:g.6343656_6343657insAGGGGCATGGC	NCBI36
NG_011700.1:g.26179_26180insAGGGGCATGGC

Transcript Alleles

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