Canonical Allele Identifier: CA549707975

Gene: WFS1

Linked Data

• dbSNP Id: rs1161713295
• gnomAD v2: 4-6292965-TC-T
• MyVariant Identifiers: chr4:g.6292966del (hg19) ; chr4:g.6291239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291240del , CM000666.2:g.6291240del	GRCh38
NC_000004.11:g.6292967del , CM000666.1:g.6292967del	GRCh37
NC_000004.10:g.6343868del	NCBI36
NG_011700.1:g.26391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.504del	ENSP00000507852.1:p.Glu169ArgfsTer?
ENST00000683395.1:c.494del
ENST00000684087.1:c.504del	ENSP00000506978.1:p.Glu169ArgfsTer?
ENST00000684700.1:c.504del	ENSP00000507806.1:p.Glu169ArgfsTer?
ENST00000506362.2:c.255del	ENSP00000424103.2:p.Glu86ArgfsTer?
ENST00000673642.1:c.303del	ENSP00000501242.1:p.Glu102ArgfsTer?
ENST00000673991.1:c.504del	ENSP00000501033.1:p.Glu169ArgfsTer?
ENST00000674051.1:c.378del	ENSP00000501083.1:p.Glu127ArgfsTer?
ENST00000226760.5:c.504del MANE Select	ENSP00000226760.1:p.Glu169ArgfsTer?
ENST00000503569.5:c.504del	ENSP00000423337.1:p.Glu169ArgfsTer?
ENST00000506362.1:c.101del
ENST00000507765.1:n.689del
NM_001145853.1:c.504del	NP_001139325.1:p.Glu169ArgfsTer?
NM_006005.3:c.504del MANE Select	NP_005996.2:p.Glu169ArgfsTer?
XM_017008586.1:c.513del	XP_016864075.1:p.Glu172ArgfsTer?