Canonical Allele Identifier: CA1949583320

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249146_5249147delinsCT , CM000673.2:g.5249146_5249147delinsCT	GRCh38
NC_000011.9:g.5270376_5270377delinsCT , CM000673.1:g.5270376_5270377delinsCT	GRCh37
NC_000011.8:g.5226952_5226953delinsCT	NCBI36
NG_000007.3:g.48469_48470delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+221_315+222delinsAG (HBG1) MANE Select	ENSP00000327431.4:n.315+221_315+222delinsAG
ENST00000642908.1:c.316-660_316-659delinsAG	ENSP00000495346.1:n.316-660_316-659delinsAG
ENST00000647543.1:c.379-660_379-659delinsAG	ENSP00000496470.1:n.379-660_379-659delinsAG
ENST00000648735.1:n.587_588delinsAG (HBG1)
ENST00000330597.3:c.315+221_315+222delinsAG (HBG1)	ENSP00000327431.3:n.315+221_315+222delinsAG
ENST00000620888.4:c.316-660_316-659delinsAG (HBG2)	ENSP00000479637.1:n.316-660_316-659delinsAG
ENST00000623781.1:c.43-225_43-224delinsCT	ENSP00000485381.1:n.43-225_43-224delinsCT
ENST00000632727.1:c.*184+221_*184+222delinsAG (HBG1)	ENSP00000488759.1:n.*184+221_*184+222delinsAG
NM_000559.2:c.315+221_315+222delinsAG (HBG1)	NP_000550.2:n.315+221_315+222delinsAG
NM_000559.3:c.315+221_315+222delinsAG (HBG1) MANE Select	NP_000550.2:n.315+221_315+222delinsAG