Canonical Allele Identifier: CA2695213060

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226939_5226941delinsCG , CM000673.2:g.5226939_5226941delinsCG	GRCh38
NC_000011.9:g.5248169_5248171delinsCG , CM000673.1:g.5248169_5248171delinsCG	GRCh37
NC_000011.8:g.5204745_5204747delinsCG	NCBI36
NG_000007.3:g.70675_70677delinsCG
NG_059281.1:g.5131_5133delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.81_83delinsCG	ENSP00000494175.1:p.Glu27AspfsTer?
ENST00000335295.4:c.81_83delinsCG MANE Select	ENSP00000333994.3:p.Glu27AspfsTer?
ENST00000380315.2:c.81_83delinsCG	ENSP00000369671.2:p.Glu27AspfsTer?
ENST00000485743.1:n.132_134delinsCG
ENST00000633227.1:c.76+5_76+7delinsCG	ENSP00000488004.1:n.76+5_76+7delinsCG
NM_000518.4:c.81_83delinsCG	NP_000509.1:p.Glu27AspfsTer?
NM_000518.5:c.81_83delinsCG MANE Select	NP_000509.1:p.Glu27AspfsTer?