Canonical Allele Identifier: CA16040797
Gene: DPYD HGNC NCBI

Linked Data

ClinVar Variation Id: 371596
ClinVar RCV Id: RCV000411299
dbSNP Id: rs1057517396
MyVariant Identifiers: chr1:g.97839136dupA (hg19) chr1:g.97839135_97839136insA (hg19) chr1:g.97373580dupA (hg38) chr1:g.97373579_97373580insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97373580dup , CM000663.2:g.97373580dup GRCh38
NC_000001.10:g.97839136dup , CM000663.1:g.97839136dup GRCh37
NC_000001.9:g.97611724dup NCBI36
NG_008807.2:g.552480dup , LRG_722:g.552480dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.2039dup MANE Select ENSP00000359211.3:p.Met680IlefsTer20
ENST00000370192.7:c.2039dup ENSP00000359211.3:p.Met680IlefsTer20
NM_000110.3:c.2039dup , LRG_722t1:c.2039dup NP_000101.2:p.Met680IlefsTer20
XM_005270562.3:c.1823dup XP_005270619.2:p.Met608IlefsTer20
XM_006710397.2:c.2039dup XP_006710460.1:p.Met680IlefsTer20
XR_947619.1:n.1125-1948dup
XR_947620.1:n.1124+6379dup
XR_947621.1:n.1125-1948dup
XM_006710397.3:c.2039dup XP_006710460.1:p.Met680IlefsTer20
XM_017000507.1:c.1928dup XP_016855996.1:p.Met643IlefsTer20
XM_017000508.2:c.1544dup XP_016855997.1:p.Met515IlefsTer20
XM_017000509.2:c.1544dup XP_016855998.1:p.Met515IlefsTer20
XM_017000510.1:c.1544dup XP_016855999.1:p.Met515IlefsTer20
NM_000110.4:c.2039dup MANE Select NP_000101.2:p.Met680IlefsTer20
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