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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
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Canonical Allele Identifier:
CA597020776
Gene: DRD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1564913903
gnomAD v2:
11-640099-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG-A
gnomAD v3:
11-640099-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG-A
gnomAD v4:
11-640099-AGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG-A
MyVariant Identifiers:
chr11:g.640100_640147del (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.640109_640156del , CM000673.2:g.640109_640156del
GRCh38
NC_000011.9:g.640109_640156del , CM000673.1:g.640109_640156del
GRCh37
NC_000011.8:g.630109_630156del
NCBI36
NG_021241.1:g.7805_7852del
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.860_907del
MANE Select
ENSP00000176183.5:p.Gln287_Pro302del
ENST00000176183.5:c.860_907del
ENSP00000176183.5:p.Gln287_Pro302del
NM_000797.3:c.860_907del
NP_000788.2:p.Gln287_Pro302del
NM_000797.4:c.860_907del
MANE Select
NP_000788.2:p.Gln287_Pro302del
Search 100 bp 5'
Search 100 bp 3'