Canonical Allele Identifier: CA525177607

Gene: DPYD

Linked Data

• dbSNP Id: rs1468744935
• gnomAD v2: 1-97981456-G-GGGTA
• gnomAD v3: 1-97515900-G-GGGTA
• gnomAD v4: 1-97515900-G-GGGTA
• MyVariant Identifiers: chr1:g.97981456_97981457insGGTA (hg19) ; chr1:g.97515900_97515901insGGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515902_97515905dup , CM000663.2:g.97515902_97515905dup	GRCh38
NC_000001.10:g.97981458_97981461dup , CM000663.1:g.97981458_97981461dup	GRCh37
NC_000001.9:g.97754046_97754049dup	NCBI36
NG_008807.2:g.410156_410159dup , LRG_722:g.410156_410159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1562_1565dup MANE Select	ENSP00000359211.3:p.Leu523ThrfsTer8
ENST00000370192.7:c.1562_1565dup	ENSP00000359211.3:p.Leu523ThrfsTer8
NM_000110.3:c.1562_1565dup , LRG_722t1:c.1562_1565dup	NP_000101.2:p.Leu523ThrfsTer8
XM_005270562.3:c.1524+33656_1524+33659dup	XP_005270619.2:n.1524+33656_1524+33659dup
XM_006710397.2:c.1562_1565dup	XP_006710460.1:p.Leu523ThrfsTer8
XM_006710397.3:c.1562_1565dup	XP_006710460.1:p.Leu523ThrfsTer8
XM_017000507.1:c.1451_1454dup	XP_016855996.1:p.Leu486ThrfsTer8
XM_017000508.2:c.1067_1070dup	XP_016855997.1:p.Leu358ThrfsTer8
XM_017000509.2:c.1067_1070dup	XP_016855998.1:p.Leu358ThrfsTer8
XM_017000510.1:c.1067_1070dup	XP_016855999.1:p.Leu358ThrfsTer8
NM_000110.4:c.1562_1565dup MANE Select	NP_000101.2:p.Leu523ThrfsTer8