Canonical Allele Identifier: CA2695213063

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226954_5226955delinsGG , CM000673.2:g.5226954_5226955delinsGG	GRCh38
NC_000011.9:g.5248184_5248185delinsGG , CM000673.1:g.5248184_5248185delinsGG	GRCh37
NC_000011.8:g.5204760_5204761delinsGG	NCBI36
NG_000007.3:g.70661_70662delinsCC
NG_059281.1:g.5117_5118delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.67_68delinsCC	ENSP00000494175.1:p.Glu23Pro
ENST00000335295.4:c.67_68delinsCC MANE Select	ENSP00000333994.3:p.Glu23Pro
ENST00000380315.2:c.67_68delinsCC	ENSP00000369671.2:p.Glu23Pro
ENST00000485743.1:n.118_119delinsCC
ENST00000633227.1:c.67_68delinsCC	ENSP00000488004.1:p.Glu23Pro
NM_000518.4:c.67_68delinsCC	NP_000509.1:p.Glu23Pro
NM_000518.5:c.67_68delinsCC MANE Select	NP_000509.1:p.Glu23Pro