Canonical Allele Identifier: CA16618050
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424071
ClinVar RCV Id: RCV000479033 RCV002509074
dbSNP Id: rs1064796781
MyVariant Identifiers: chr4:g.6279306del (hg19) chr4:g.6277579del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277579del , CM000666.2:g.6277579del GRCh38
NC_000004.11:g.6279306del , CM000666.1:g.6279306del GRCh37
NC_000004.10:g.6330207del NCBI36
NG_011700.1:g.12730del

Transcript Alleles

HGVS Amino-acid change
ENST00000506588.6:n.294del
ENST00000682059.1:c.124del ENSP00000507988.1:p.Arg42GlufsTer?
ENST00000682275.1:c.124del ENSP00000507852.1:p.Arg42GlufsTer?
ENST00000683395.1:c.114del
ENST00000684054.1:c.124del ENSP00000507120.1:p.Arg42GlufsTer?
ENST00000684087.1:c.124del ENSP00000506978.1:p.Arg42GlufsTer?
ENST00000684700.1:c.124del ENSP00000507806.1:p.Arg42GlufsTer?
ENST00000506362.2:c.-18+7565del ENSP00000424103.2:n.-18+7565del
ENST00000673991.1:c.124del ENSP00000501033.1:p.Arg42GlufsTer?
ENST00000674051.1:c.66+58del ENSP00000501083.1:n.66+58del
ENST00000226760.5:c.124del MANE Select ENSP00000226760.1:p.Arg42GlufsTer?
ENST00000503569.5:c.124del ENSP00000423337.1:p.Arg42GlufsTer?
ENST00000506588.5:n.294del
NM_001145853.1:c.124del NP_001139325.1:p.Arg42GlufsTer?
NM_006005.3:c.124del MANE Select NP_005996.2:p.Arg42GlufsTer?
XM_017008586.1:c.133del XP_016864075.1:p.Arg45GlufsTer?
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