Canonical Allele Identifier: CA276185

Gene: WFS1

Linked Data

• ClinVar Variation Id: 209207
• ClinVar RCV Id: RCV000191146 ; RCV000200365 ; RCV001536011
• dbSNP Id: rs797045076
• ExAC: 4:6304167 TTTTC / T
• gnomAD v2: 4-6304167-TTTTC-T
• gnomAD v3: 4-6302440-TTTTC-T
• gnomAD v4: 4-6302440-TTTTC-T
• MyVariant Identifiers: chr4:g.6304170_6304173del (hg19) ; chr4:g.6304168_6304171del (hg19) ; chr4:g.6302443_6302446del (hg38) ; chr4:g.6302442_6302445del (hg38) ; chr4:g.6302441_6302444del (hg38)
• PubMed: PMID:10521293 ; PMID:11260218 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302443_6302446del , CM000666.2:g.6302443_6302446del	GRCh38
NC_000004.11:g.6304170_6304173del , CM000666.1:g.6304170_6304173del	GRCh37
NC_000004.10:g.6355071_6355074del	NCBI36
NG_011700.1:g.37594_37597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2684_2687del	ENSP00000507852.1:p.Phe895SerfsTer?
ENST00000683395.1:c.2625_2628del
ENST00000684087.1:c.2648_2651del	ENSP00000506978.1:p.Phe883SerfsTer?
ENST00000506362.2:c.2399_2402del	ENSP00000424103.2:p.Phe800SerfsTer?
ENST00000673991.1:c.2684_2687del	ENSP00000501033.1:p.Phe895SerfsTer?
ENST00000226760.5:c.2648_2651del MANE Select	ENSP00000226760.1:p.Phe883SerfsTer?
ENST00000503569.5:c.2648_2651del	ENSP00000423337.1:p.Phe883SerfsTer?
ENST00000507765.1:n.2833_2836del
NM_001145853.1:c.2648_2651del	NP_001139325.1:p.Phe883SerfsTer?
NM_006005.3:c.2648_2651del MANE Select	NP_005996.2:p.Phe883SerfsTer?
XM_017008586.1:c.2657_2660del	XP_016864075.1:p.Phe886SerfsTer?