Canonical Allele Identifier: CA125295
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15429
ClinVar RCV Id: RCV000016686 RCV001078257
dbSNP Id: rs36107977
MyVariant Identifiers: chr11:g.5247929del (hg19) chr11:g.5247928del (hg19) chr11:g.5226699del (hg38) chr11:g.5226698del (hg38)
PubMed: PMID:2665856 PMID:4512457
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226699del , CM000673.2:g.5226699del GRCh38
NC_000011.9:g.5247929del , CM000673.1:g.5247929del GRCh37
NC_000011.8:g.5204505del NCBI36
NG_000007.3:g.70918del
NG_059281.1:g.5374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.194del ENSP00000494175.1:p.Gly65AlafsTer25
ENST00000335295.4:c.194del MANE Select ENSP00000333994.3:p.Gly65AlafsTer25
ENST00000380315.2:c.194del ENSP00000369671.2:p.Gly65AlafsTer25
ENST00000475226.1:n.126del
ENST00000485743.1:n.245del
ENST00000633227.1:c.*10del ENSP00000488004.1:n.*10del
NM_000518.4:c.194del NP_000509.1:p.Gly65AlafsTer25
NM_000518.5:c.194del MANE Select NP_000509.1:p.Gly65AlafsTer25
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