Canonical Allele Identifier: CA1949564204
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225611_5225613delinsTGG , CM000673.2:g.5225611_5225613delinsTGG GRCh38
NC_000011.9:g.5246841_5246843delinsTGG , CM000673.1:g.5246841_5246843delinsTGG GRCh37
NC_000011.8:g.5203417_5203419delinsTGG NCBI36
NG_000007.3:g.72003_72005delinsCCA
NG_059281.1:g.6459_6461delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.429_431delinsCCA ENSP00000494175.1:p.Ala143=
ENST00000335295.4:c.429_431delinsCCA MANE Select ENSP00000333994.3:p.Ala143=
ENST00000633227.1:c.*245_*247delinsCCA ENSP00000488004.1:n.*245_*247delinsCCA
NM_000518.4:c.429_431delinsCCA NP_000509.1:p.Ala143=
NM_000518.5:c.429_431delinsCCA MANE Select NP_000509.1:p.Ala143=
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