Canonical Allele Identifier: CA2739270017

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2814699
• ClinVar RCV Id: RCV003683052

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302163_6302186del , CM000666.2:g.6302163_6302186del	GRCh38
NC_000004.11:g.6303890_6303913del , CM000666.1:g.6303890_6303913del	GRCh37
NC_000004.10:g.6354791_6354814del	NCBI36
NG_011700.1:g.37314_37337del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2404_2427del	ENSP00000507852.1:p.Ser802_Asp809del
ENST00000683395.1:c.2345_2368del
ENST00000684087.1:c.2368_2391del	ENSP00000506978.1:p.Ser790_Asp797del
ENST00000506362.2:c.2119_2142del	ENSP00000424103.2:p.Ser707_Asp714del
ENST00000673991.1:c.2404_2427del	ENSP00000501033.1:p.Ser802_Asp809del
ENST00000226760.5:c.2368_2391del MANE Select	ENSP00000226760.1:p.Ser790_Asp797del
ENST00000503569.5:c.2368_2391del	ENSP00000423337.1:p.Ser790_Asp797del
ENST00000507765.1:n.2553_2576del
NM_001145853.1:c.2368_2391del	NP_001139325.1:p.Ser790_Asp797del
NM_006005.3:c.2368_2391del MANE Select	NP_005996.2:p.Ser790_Asp797del
XM_017008586.1:c.2377_2400del	XP_016864075.1:p.Ser793_Asp800del