Canonical Allele Identifier: CA1949569276
Gene: HBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226762_5226765delinsCAAA , CM000673.2:g.5226762_5226765delinsCAAA GRCh38
NC_000011.9:g.5247992_5247995delinsCAAA , CM000673.1:g.5247992_5247995delinsCAAA GRCh37
NC_000011.8:g.5204568_5204571delinsCAAA NCBI36
NG_000007.3:g.70851_70854delinsTTTG
NG_059281.1:g.5307_5310delinsTTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.127_130delinsTTTG ENSP00000494175.1:p.Phe43=
ENST00000335295.4:c.127_130delinsTTTG MANE Select ENSP00000333994.3:p.Phe43=
ENST00000380315.2:c.127_130delinsTTTG ENSP00000369671.2:p.Phe43=
ENST00000475226.1:n.59_62delinsTTTG
ENST00000485743.1:n.178_181delinsTTTG
ENST00000633227.1:c.111_114delinsTTTG ENSP00000488004.1:p.Ser37=
NM_000518.4:c.127_130delinsTTTG NP_000509.1:p.Phe43=
NM_000518.5:c.127_130delinsTTTG MANE Select NP_000509.1:p.Phe43=
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