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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:
CA934687456
Gene: HBB
HGNC
NCBI
Linked Data
dbSNP Id:
rs1847542377
gnomAD v3:
11-5226185-AG-A
gnomAD v4:
11-5226185-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5226186del , CM000673.2:g.5226186del
GRCh38
NC_000011.9:g.5247416del , CM000673.1:g.5247416del
GRCh37
NC_000011.8:g.5203992del
NCBI36
NG_000007.3:g.71430del
NG_059281.1:g.5886del
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.315+391del
ENSP00000494175.1:n.315+391del
ENST00000335295.4:c.315+391del
MANE Select
ENSP00000333994.3:n.315+391del
ENST00000475226.1:n.247+391del
ENST00000633227.1:c.*131+391del
ENSP00000488004.1:n.*131+391del
NM_000518.4:c.315+391del
NP_000509.1:n.315+391del
NM_000518.5:c.315+391del
MANE Select
NP_000509.1:n.315+391del
Search 100 bp 5'
Search 100 bp 3'