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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:
CA2805501932
Gene: HBA1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.176755del , CM000678.2:g.176755del
GRCh38
NC_000016.9:g.226754del , CM000678.1:g.226754del
GRCh37
NC_000016.8:g.166754del
NCBI36
NG_000006.1:g.37618del
NG_059186.1:g.5105del
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.39del
MANE Select
ENSP00000322421.5:p.Ala14ProfsTer?
ENST00000397797.1:c.-9del
ENSP00000380899.1:n.-9del
ENST00000472694.1:n.58del
ENST00000487791.1:n.8del
NM_000558.4:c.39del
NP_000549.1:p.Ala14ProfsTer?
NM_000558.5:c.39del
MANE Select
NP_000549.1:p.Ala14ProfsTer?
Search 100 bp 5'
Search 100 bp 3'