Canonical Allele Identifier: CA16621816
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425327
ClinVar RCV Id: RCV000488192 RCV003126754
dbSNP Id: rs1064797306
gnomAD v2: 4-6303728-GGCGA-G
MyVariant Identifiers: chr4:g.6303729_6303732del (hg19) chr4:g.6302002_6302005del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302003_6302006del , CM000666.2:g.6302003_6302006del GRCh38
NC_000004.11:g.6303730_6303733del , CM000666.1:g.6303730_6303733del GRCh37
NC_000004.10:g.6354631_6354634del NCBI36
NG_011700.1:g.37154_37157del

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2244_2247del ENSP00000507852.1:p.Glu749ProfsTer?
ENST00000683395.1:c.2185_2188del
ENST00000684087.1:c.2208_2211del ENSP00000506978.1:p.Glu737ProfsTer?
ENST00000506362.2:c.1959_1962del ENSP00000424103.2:p.Glu654ProfsTer?
ENST00000673642.1:c.1867_1870del ENSP00000501242.1:n.1867_1870del
ENST00000673991.1:c.2244_2247del ENSP00000501033.1:p.Glu749ProfsTer?
ENST00000226760.5:c.2208_2211del MANE Select ENSP00000226760.1:p.Glu737ProfsTer?
ENST00000503569.5:c.2208_2211del ENSP00000423337.1:p.Glu737ProfsTer?
ENST00000507765.1:n.2393_2396del
NM_001145853.1:c.2208_2211del NP_001139325.1:p.Glu737ProfsTer?
NM_006005.3:c.2208_2211del MANE Select NP_005996.2:p.Glu737ProfsTer?
XM_017008586.1:c.2217_2220del XP_016864075.1:p.Glu740ProfsTer?
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