Canonical Allele Identifier: CA16040805
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 370593
ClinVar RCV Id: RCV000409377
dbSNP Id: rs1057516615
MyVariant Identifiers: chr1:g.98015122del (hg19) chr1:g.97549566del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549566del , CM000663.2:g.97549566del GRCh38
NC_000001.10:g.98015122del , CM000663.1:g.98015122del GRCh37
NC_000001.9:g.97787710del NCBI36
NG_008807.2:g.376494del , LRG_722:g.376494del

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.1518del MANE Select ENSP00000359211.3:p.Tyr506Ter
ENST00000370192.7:c.1518del ENSP00000359211.3:p.Tyr506Ter
NM_000110.3:c.1518del , LRG_722t1:c.1518del NP_000101.2:p.Tyr506Ter
XM_005270562.3:c.1518del XP_005270619.2:p.Tyr506Ter
XM_006710397.2:c.1518del XP_006710460.1:p.Tyr506Ter
XM_006710397.3:c.1518del XP_006710460.1:p.Tyr506Ter
XM_017000507.1:c.1407del XP_016855996.1:p.Tyr469Ter
XM_017000508.2:c.1023del XP_016855997.1:p.Tyr341Ter
XM_017000509.2:c.1023del XP_016855998.1:p.Tyr341Ter
XM_017000510.1:c.1023del XP_016855999.1:p.Tyr341Ter
NM_000110.4:c.1518del MANE Select NP_000101.2:p.Tyr506Ter
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