×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2611722010
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-637526-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.637526_637527insC , CM000673.2:g.637526_637527insC
GRCh38
NC_000011.9:g.637526_637527insC , CM000673.1:g.637526_637527insC
GRCh37
NC_000011.8:g.627526_627527insC
NCBI36
NG_021241.1:g.5222_5223insC
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.222_223insC
MANE Select
ENSP00000176183.5:p.Ser75GlnfsTer?
ENST00000176183.5:c.222_223insC
ENSP00000176183.5:p.Ser75GlnfsTer?
NM_000797.3:c.222_223insC
NP_000788.2:p.Ser75GlnfsTer?
NM_000797.4:c.222_223insC
MANE Select
NP_000788.2:p.Ser75GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'