Canonical Allele Identifier: CA525177690

Gene: DPYD

Linked Data

• dbSNP Id: rs1557790945
• gnomAD v2: 1-98015226-T-TAG
• gnomAD v4: 1-97549670-T-TAG
• MyVariant Identifiers: chr1:g.98015226_98015227insAG (hg19) ; chr1:g.97549670_97549671insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549671_97549672dup , CM000663.2:g.97549671_97549672dup	GRCh38
NC_000001.10:g.98015227_98015228dup , CM000663.1:g.98015227_98015228dup	GRCh37
NC_000001.9:g.97787815_97787816dup	NCBI36
NG_008807.2:g.376388_376389dup , LRG_722:g.376388_376389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1412_1413dup MANE Select	ENSP00000359211.3:p.Ser472LeufsTer23
ENST00000370192.7:c.1412_1413dup	ENSP00000359211.3:p.Ser472LeufsTer23
NM_000110.3:c.1412_1413dup , LRG_722t1:c.1412_1413dup	NP_000101.2:p.Ser472LeufsTer23
XM_005270562.3:c.1412_1413dup	XP_005270619.2:p.Ser472LeufsTer23
XM_006710397.2:c.1412_1413dup	XP_006710460.1:p.Ser472LeufsTer23
XM_006710397.3:c.1412_1413dup	XP_006710460.1:p.Ser472LeufsTer23
XM_017000507.1:c.1301_1302dup	XP_016855996.1:p.Ser435LeufsTer23
XM_017000508.2:c.917_918dup	XP_016855997.1:p.Ser307LeufsTer23
XM_017000509.2:c.917_918dup	XP_016855998.1:p.Ser307LeufsTer23
XM_017000510.1:c.917_918dup	XP_016855999.1:p.Ser307LeufsTer23
NM_000110.4:c.1412_1413dup MANE Select	NP_000101.2:p.Ser472LeufsTer23