Canonical Allele Identifier: CA217113925
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869270
ClinVar RCV Id: RCV001078315
dbSNP Id: rs281864906
MyVariant Identifiers: chr11:g.5247892_5247893del (hg19) chr11:g.5226662_5226663del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226662_5226663del , CM000673.2:g.5226662_5226663del GRCh38
NC_000011.9:g.5247892_5247893del , CM000673.1:g.5247892_5247893del GRCh37
NC_000011.8:g.5204468_5204469del NCBI36
NG_000007.3:g.70953_70954del
NG_059281.1:g.5409_5410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.229_230del ENSP00000494175.1:p.Ala77SerfsTer14
ENST00000335295.4:c.229_230del MANE Select ENSP00000333994.3:p.Ala77SerfsTer14
ENST00000380315.2:c.229_230del ENSP00000369671.2:p.Ala77SerfsTer14
ENST00000475226.1:n.161_162del
ENST00000485743.1:n.280_281del
ENST00000633227.1:c.*45_*46del ENSP00000488004.1:n.*45_*46del
NM_000518.4:c.229_230del NP_000509.1:p.Ala77SerfsTer14
NM_000518.5:c.229_230del MANE Select NP_000509.1:p.Ala77SerfsTer14
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