×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA125308
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15445
ClinVar RCV Id:
RCV000016703
RCV001078435
RCV003317038
dbSNP Id:
rs63751076
MyVariant Identifiers:
chr11:g.5248133_5248176del (hg19)
chr11:g.5226903_5226946del (hg38)
PubMed:
PMID:6714226
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5226904_5226947del , CM000673.2:g.5226904_5226947del
GRCh38
NC_000011.9:g.5248134_5248177del , CM000673.1:g.5248134_5248177del
GRCh37
NC_000011.8:g.5204710_5204753del
NCBI36
NG_000007.3:g.70670_70713del
NG_059281.1:g.5126_5169del
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.76_92+27del
ENST00000335295.4:c.76_92+27del
ENST00000380315.2:c.76_92+27del
ENST00000485743.1:n.127_143+27del
ENST00000633227.1:c.76_76+43del
NM_000518.4:c.76_92+27del
NM_000518.5:c.76_92+27del
Search 100 bp 5'
Search 100 bp 3'