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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:
CA125997
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15875
ClinVar RCV Id:
RCV000017221
RCV000022601
RCV001078389
dbSNP Id:
rs35672478
MyVariant Identifiers:
chr16:g.227019_227021del (hg19)
chr16:g.177020_177022del (hg38)
PubMed:
PMID:10569720
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.177021_177023del , CM000678.2:g.177021_177023del
GRCh38
NC_000016.9:g.227020_227022del , CM000678.1:g.227020_227022del
GRCh37
NC_000016.8:g.167020_167022del
NCBI36
NG_000006.1:g.37884_37886del
NG_059186.1:g.5371_5373del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000320868.9:c.188_190del
MANE Select
ENSP00000322421.5:p.Val63del
ENST00000397797.1:c.92_94del
ENSP00000380899.1:p.Val31del
ENST00000472694.1:n.324_326del
ENST00000487791.1:n.157_159del
NM_000558.4:c.188_190del
NP_000549.1:p.Val63del
NM_000558.5:c.188_190del
MANE Select
NP_000549.1:p.Val63del
Search 100 bp 5'
Search 100 bp 3'