Canonical Allele Identifier: CA2573052346

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1321081
• ClinVar RCV Id: RCV001777060
• dbSNP Id: rs2109125562

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301038_6301046dup , CM000666.2:g.6301038_6301046dup	GRCh38
NC_000004.11:g.6302765_6302773dup , CM000666.1:g.6302765_6302773dup	GRCh37
NC_000004.10:g.6353666_6353674dup	NCBI36
NG_011700.1:g.36189_36197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1279_1287dup	ENSP00000507852.1:p.Phe429_Ser430insValIlePhe
ENST00000683395.1:c.1220_1228dup
ENST00000684087.1:c.1243_1251dup	ENSP00000506978.1:p.Phe417_Ser418insValIlePhe
ENST00000506362.2:c.994_1002dup	ENSP00000424103.2:p.Phe334_Ser335insValIlePhe
ENST00000673642.1:c.902_910dup	ENSP00000501242.1:p.Leu303_Leu304insArgHisLeu
ENST00000673991.1:c.1279_1287dup	ENSP00000501033.1:p.Phe429_Ser430insValIlePhe
ENST00000226760.5:c.1243_1251dup MANE Select	ENSP00000226760.1:p.Phe417_Ser418insValIlePhe
ENST00000503569.5:c.1243_1251dup	ENSP00000423337.1:p.Phe417_Ser418insValIlePhe
ENST00000507765.1:n.1428_1436dup
NM_001145853.1:c.1243_1251dup	NP_001139325.1:p.Phe417_Ser418insValIlePhe
NM_006005.3:c.1243_1251dup MANE Select	NP_005996.2:p.Phe417_Ser418insValIlePhe
XM_017008586.1:c.1252_1260dup	XP_016864075.1:p.Phe420_Ser421insValIlePhe