Canonical Allele Identifier: CA1949568259
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226665_5226666delinsAG , CM000673.2:g.5226665_5226666delinsAG GRCh38
NC_000011.9:g.5247895_5247896delinsAG , CM000673.1:g.5247895_5247896delinsAG GRCh37
NC_000011.8:g.5204471_5204472delinsAG NCBI36
NG_000007.3:g.70950_70951delinsCT
NG_059281.1:g.5406_5407delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.226_227delinsCT ENSP00000494175.1:p.Leu76=
ENST00000335295.4:c.226_227delinsCT MANE Select ENSP00000333994.3:p.Leu76=
ENST00000380315.2:c.226_227delinsCT ENSP00000369671.2:p.Leu76=
ENST00000475226.1:n.158_159delinsCT
ENST00000485743.1:n.277_278delinsCT
ENST00000633227.1:c.*42_*43delinsCT ENSP00000488004.1:n.*42_*43delinsCT
NM_000518.4:c.226_227delinsCT NP_000509.1:p.Leu76=
NM_000518.5:c.226_227delinsCT MANE Select NP_000509.1:p.Leu76=
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