Canonical Allele Identifier: CA16040808
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 370780
ClinVar RCV Id: RCV000411796
dbSNP Id: rs1057516761

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97573784del , CM000663.2:g.97573784del GRCh38
NC_000001.10:g.98039340del , CM000663.1:g.98039340del GRCh37
NC_000001.9:g.97811928del NCBI36
NG_008807.2:g.352277del , LRG_722:g.352277del

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.1316del MANE Select ENSP00000359211.3:p.Gly439ValfsTer4
ENST00000370192.7:c.1316del ENSP00000359211.3:p.Gly439ValfsTer4
NM_000110.3:c.1316del , LRG_722t1:c.1316del NP_000101.2:p.Gly439ValfsTer4
XM_005270562.3:c.1316del XP_005270619.2:p.Gly439ValfsTer4
XM_006710397.2:c.1316del XP_006710460.1:p.Gly439ValfsTer4
XM_006710397.3:c.1316del XP_006710460.1:p.Gly439ValfsTer4
XM_017000507.1:c.1205del XP_016855996.1:p.Gly402ValfsTer4
XM_017000508.2:c.821del XP_016855997.1:p.Gly274ValfsTer4
XM_017000509.2:c.821del XP_016855998.1:p.Gly274ValfsTer4
XM_017000510.1:c.821del XP_016855999.1:p.Gly274ValfsTer4
NM_000110.4:c.1316del MANE Select NP_000101.2:p.Gly439ValfsTer4