Allele Registry

Canonical Allele Identifier: CA126863

Gene: DRD4 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM128621

COSM3737161

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.637539_637551del

GRCh38 chr11:g.637538_637550del

GRCh38 chr11:g.637537_637549del

GRCh37 chr11:g.637539_637551del

GRCh37 chr11:g.637537_637549del

Linked Data - Sequence & Population

gnomAD v2:

11:637536 GCCGCCGACCTCCT / G

gnomAD v3:

11:637536 GCCGCCGACCTCCT / G

gnomAD v4:

chr11-637536-GCCGCCGACCTCCT-G

Joint Max Group AF 0.01396913 (NFE)

Genomes Max Group AF 0.01334698 (NFE)

Exomes Max Group AF 0.01396681 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000018254

RCV001573700

RCV001727514

ClinVar Variation:

16767

dbSNP:

587776842

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.637539_637551del , CM000673.2:g.637539_637551del	GRCh38
NC_000011.9:g.637539_637551del , CM000673.1:g.637539_637551del	GRCh37
NC_000011.8:g.627539_627551del	NCBI36
NG_021241.1:g.5235_5247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176183.6:c.235_247del MANE Select	ENSP00000176183.5:p.Ala79SerfsTer21
ENST00000176183.5:c.235_247del	ENSP00000176183.5:p.Ala79SerfsTer21
NM_000797.3:c.235_247del	NP_000788.2:p.Ala79SerfsTer21
NM_000797.4:c.235_247del MANE Select	NP_000788.2:p.Ala79SerfsTer21

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