×
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:
CA2611727133
Gene: DRD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-640099-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640100_640155del , CM000673.2:g.640100_640155del
GRCh38
NC_000011.9:g.640100_640155del , CM000673.1:g.640100_640155del
GRCh37
NC_000011.8:g.630100_630155del
NCBI36
NG_021241.1:g.7796_7851del
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.851_906del
MANE Select
ENSP00000176183.5:p.Ser284ThrfsTer?
ENST00000176183.5:c.851_906del
ENSP00000176183.5:p.Ser284ThrfsTer?
NM_000797.3:c.851_906del
NP_000788.2:p.Ser284ThrfsTer?
NM_000797.4:c.851_906del
MANE Select
NP_000788.2:p.Ser284ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'