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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:
CA2677777388
Gene: HCG4
HGNC
NCBI
HLA-V
HGNC
NCBI
Linked Data
gnomAD v4:
6-29792575-CGCGGGCGCCGTG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29792577_29792588del , CM000668.2:g.29792577_29792588del
GRCh38
NC_000006.11:g.29760354_29760365del , CM000668.1:g.29760354_29760365del
GRCh37
NC_000006.10:g.29868333_29868344del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000418983.1:n.164_175del
(HCG4)
ENST00000429037.2:n.213_224del
(HLA-V)
ENST00000446817.1:n.323_334del
(HLA-V)
ENST00000457107.5:n.224_235del
(HLA-V)
ENST00000476601.5:n.541_552del
(HLA-V)
NM_001207043.1:c.439_450del
NP_001193972.1:p.Arg147_Trp150del
NR_002139.2:n.487_498del
(HCG4)
NR_132323.1:n.541_552del
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