Canonical Allele Identifier: CA1435772232

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300821_6300835delinsCTTCTTCATCCCGCT , CM000666.2:g.6300821_6300835delinsCTTCTTCATCCCGCT	GRCh38
NC_000004.11:g.6302548_6302562delinsCTTCTTCATCCCGCT , CM000666.1:g.6302548_6302562delinsCTTCTTCATCCCGCT	GRCh37
NC_000004.10:g.6353449_6353463delinsCTTCTTCATCCCGCT	NCBI36
NG_011700.1:g.35972_35986delinsCTTCTTCATCCCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1062_1076delinsCTTCTTCATCCCGCT	ENSP00000507852.1:p.Ala354=
ENST00000683395.1:c.1003_1017delinsCTTCTTCATCCCGCT
ENST00000684087.1:c.1026_1040delinsCTTCTTCATCCCGCT	ENSP00000506978.1:p.Ala342=
ENST00000506362.2:c.777_791delinsCTTCTTCATCCCGCT	ENSP00000424103.2:p.Ala259=
ENST00000673642.1:c.685_699delinsCTTCTTCATCCCGCT	ENSP00000501242.1:p.Leu229=
ENST00000673991.1:c.1062_1076delinsCTTCTTCATCCCGCT	ENSP00000501033.1:p.Ala354=
ENST00000226760.5:c.1026_1040delinsCTTCTTCATCCCGCT MANE Select	ENSP00000226760.1:p.Ala342=
ENST00000503569.5:c.1026_1040delinsCTTCTTCATCCCGCT	ENSP00000423337.1:p.Ala342=
ENST00000506362.1:c.659_673delinsCTTCTTCATCCCGCT
ENST00000507765.1:n.1211_1225delinsCTTCTTCATCCCGCT
NM_001145853.1:c.1026_1040delinsCTTCTTCATCCCGCT	NP_001139325.1:p.Ala342=
NM_006005.3:c.1026_1040delinsCTTCTTCATCCCGCT MANE Select	NP_005996.2:p.Ala342=
XM_017008586.1:c.1035_1049delinsCTTCTTCATCCCGCT	XP_016864075.1:p.Ala345=