Canonical Allele Identifier: CA2839163

Gene: WFS1

Linked Data

• dbSNP Id: rs774469285
• ExAC: 4:6302468 TCCA / T
• gnomAD v2: 4-6302468-TCCA-T
• gnomAD v3: 4-6300741-TCCA-T
• gnomAD v4: 4-6300741-TCCA-T
• MyVariant Identifiers: chr4:g.6302469_6302471del (hg19) ; chr4:g.6300742_6300744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300745_6300747del , CM000666.2:g.6300745_6300747del	GRCh38
NC_000004.11:g.6302472_6302474del , CM000666.1:g.6302472_6302474del	GRCh37
NC_000004.10:g.6353373_6353375del	NCBI36
NG_011700.1:g.35896_35898del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.986_988del	ENSP00000507852.1:p.Thr329del
ENST00000683395.1:c.927_929del
ENST00000684087.1:c.950_952del	ENSP00000506978.1:p.Thr317del
ENST00000506362.2:c.701_703del	ENSP00000424103.2:p.Thr234del
ENST00000673642.1:c.661-52_661-50del	ENSP00000501242.1:n.661-52_661-50del
ENST00000673991.1:c.986_988del	ENSP00000501033.1:p.Thr329del
ENST00000226760.5:c.950_952del MANE Select	ENSP00000226760.1:p.Thr317del
ENST00000503569.5:c.950_952del	ENSP00000423337.1:p.Thr317del
ENST00000506362.1:c.583_585del
ENST00000507765.1:n.1135_1137del
ENST00000513395.1:n.508_510del
NM_001145853.1:c.950_952del	NP_001139325.1:p.Thr317del
NM_006005.3:c.950_952del MANE Select	NP_005996.2:p.Thr317del
XM_017008586.1:c.959_961del	XP_016864075.1:p.Thr320del