Canonical Allele Identifier: CA1949567804
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226629_5226630delinsGT , CM000673.2:g.5226629_5226630delinsGT GRCh38
NC_000011.9:g.5247859_5247860delinsGT , CM000673.1:g.5247859_5247860delinsGT GRCh37
NC_000011.8:g.5204435_5204436delinsGT NCBI36
NG_000007.3:g.70986_70987delinsAC
NG_059281.1:g.5442_5443delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.262_263delinsAC ENSP00000494175.1:p.Thr88=
ENST00000335295.4:c.262_263delinsAC MANE Select ENSP00000333994.3:p.Thr88=
ENST00000380315.2:c.262_263delinsAC ENSP00000369671.2:p.Thr88=
ENST00000475226.1:n.194_195delinsAC
ENST00000485743.1:n.313_314delinsAC
ENST00000633227.1:c.*78_*79delinsAC ENSP00000488004.1:n.*78_*79delinsAC
NM_000518.4:c.262_263delinsAC NP_000509.1:p.Thr88=
NM_000518.5:c.262_263delinsAC MANE Select NP_000509.1:p.Thr88=
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