Canonical Allele Identifier: CA740795856

Gene: DPYD

Linked Data

• ClinVar Variation Id: 2674939
• ClinVar RCV Id: RCV003459995
• dbSNP Id: rs1437370264
• gnomAD v3: 1-97549697-CT-C
• gnomAD v4: 1-97549697-CT-C
• MyVariant Identifiers: chr1:g.98015254del (hg19) ; chr1:g.97549698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549698del , CM000663.2:g.97549698del	GRCh38
NC_000001.10:g.98015254del , CM000663.1:g.98015254del	GRCh37
NC_000001.9:g.97787842del	NCBI36
NG_008807.2:g.376362del , LRG_722:g.376362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1386del MANE Select	ENSP00000359211.3:p.Glu463LysfsTer2
ENST00000370192.7:c.1386del	ENSP00000359211.3:p.Glu463LysfsTer2
NM_000110.3:c.1386del , LRG_722t1:c.1386del	NP_000101.2:p.Glu463LysfsTer2
XM_005270562.3:c.1386del	XP_005270619.2:p.Glu463LysfsTer2
XM_006710397.2:c.1386del	XP_006710460.1:p.Glu463LysfsTer2
XM_006710397.3:c.1386del	XP_006710460.1:p.Glu463LysfsTer2
XM_017000507.1:c.1275del	XP_016855996.1:p.Glu426LysfsTer2
XM_017000508.2:c.891del	XP_016855997.1:p.Glu298LysfsTer2
XM_017000509.2:c.891del	XP_016855998.1:p.Glu298LysfsTer2
XM_017000510.1:c.891del	XP_016855999.1:p.Glu298LysfsTer2
NM_000110.4:c.1386del MANE Select	NP_000101.2:p.Glu463LysfsTer2