Canonical Allele Identifier: CA2790274439

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226948_5226949insG , CM000673.2:g.5226948_5226949insG	GRCh38
NC_000011.9:g.5248178_5248179insG , CM000673.1:g.5248178_5248179insG	GRCh37
NC_000011.8:g.5204754_5204755insG	NCBI36
NG_000007.3:g.70667_70668insC
NG_059281.1:g.5123_5124insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.73_74insC	ENSP00000494175.1:p.Gly25AlafsTer3
ENST00000335295.4:c.73_74insC MANE Select	ENSP00000333994.3:p.Gly25AlafsTer3
ENST00000380315.2:c.73_74insC	ENSP00000369671.2:p.Gly25AlafsTer3
ENST00000485743.1:n.124_125insC
ENST00000633227.1:c.73_74insC	ENSP00000488004.1:p.Gly25AlafsTer?
NM_000518.4:c.73_74insC	NP_000509.1:p.Gly25AlafsTer3
NM_000518.5:c.73_74insC MANE Select	NP_000509.1:p.Gly25AlafsTer3