Canonical Allele Identifier: CA1949571090
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227004_5227005delinsAG , CM000673.2:g.5227004_5227005delinsAG GRCh38
NC_000011.9:g.5248234_5248235delinsAG , CM000673.1:g.5248234_5248235delinsAG GRCh37
NC_000011.8:g.5204810_5204811delinsAG NCBI36
NG_000007.3:g.70611_70612delinsCT
NG_059281.1:g.5067_5068delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.17_18delinsCT ENSP00000494175.1:p.Pro6=
ENST00000335295.4:c.17_18delinsCT MANE Select ENSP00000333994.3:p.Pro6=
ENST00000380315.2:c.17_18delinsCT ENSP00000369671.2:p.Pro6=
ENST00000485743.1:n.68_69delinsCT
ENST00000633227.1:c.17_18delinsCT ENSP00000488004.1:p.Pro6=
NM_000518.4:c.17_18delinsCT NP_000509.1:p.Pro6=
NM_000518.5:c.17_18delinsCT MANE Select NP_000509.1:p.Pro6=
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