Canonical Allele Identifier: CA2574735789

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249347_5249348dup , CM000673.2:g.5249347_5249348dup	GRCh38
NC_000011.9:g.5270577_5270578dup , CM000673.1:g.5270577_5270578dup	GRCh37
NC_000011.8:g.5227153_5227154dup	NCBI36
NG_000007.3:g.48268_48269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+20_315+21dup (HBG1) MANE Select	ENSP00000327431.4:n.315+20_315+21dup
ENST00000642908.1:c.316-861_316-860dup	ENSP00000495346.1:n.316-861_316-860dup
ENST00000647543.1:c.379-861_379-860dup	ENSP00000496470.1:n.379-861_379-860dup
ENST00000648735.1:n.386_387dup (HBG1)
ENST00000330597.3:c.315+20_315+21dup (HBG1)	ENSP00000327431.3:n.315+20_315+21dup
ENST00000620888.4:c.316-861_316-860dup (HBG2)	ENSP00000479637.1:n.316-861_316-860dup
ENST00000623781.1:c.43-24_43-23dup	ENSP00000485381.1:n.43-24_43-23dup
ENST00000632727.1:c.*184+20_*184+21dup (HBG1)	ENSP00000488759.1:n.*184+20_*184+21dup
NM_000559.2:c.315+20_315+21dup (HBG1)	NP_000550.2:n.315+20_315+21dup
NM_000559.3:c.315+20_315+21dup (HBG1) MANE Select	NP_000550.2:n.315+20_315+21dup