Canonical Allele Identifier: CA2790279779

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249325_5249326insTTAGTCT , CM000673.2:g.5249325_5249326insTTAGTCT	GRCh38
NC_000011.9:g.5270555_5270556insTTAGTCT , CM000673.1:g.5270555_5270556insTTAGTCT	GRCh37
NC_000011.8:g.5227131_5227132insTTAGTCT	NCBI36
NG_000007.3:g.48292_48293insACTAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+44_315+45insACTAAAG (HBG1) MANE Select	ENSP00000327431.4:n.315+44_315+45insACTAAAG
ENST00000642908.1:c.316-837_316-836insACTAAAG	ENSP00000495346.1:n.316-837_316-836insACTAAAG
ENST00000647543.1:c.379-837_379-836insACTAAAG	ENSP00000496470.1:n.379-837_379-836insACTAAAG
ENST00000648735.1:n.410_411insACTAAAG (HBG1)
ENST00000330597.3:c.315+44_315+45insACTAAAG (HBG1)	ENSP00000327431.3:n.315+44_315+45insACTAAAG
ENST00000620888.4:c.316-837_316-836insACTAAAG (HBG2)	ENSP00000479637.1:n.316-837_316-836insACTAAAG
ENST00000623781.1:c.43-46_43-45insTTAGTCT	ENSP00000485381.1:n.43-46_43-45insTTAGTCT
ENST00000632727.1:c.*184+44_*184+45insACTAAAG (HBG1)	ENSP00000488759.1:n.*184+44_*184+45insACTAAAG
NM_000559.2:c.315+44_315+45insACTAAAG (HBG1)	NP_000550.2:n.315+44_315+45insACTAAAG
NM_000559.3:c.315+44_315+45insACTAAAG (HBG1) MANE Select	NP_000550.2:n.315+44_315+45insACTAAAG