Canonical Allele Identifier: CA1949583748

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249556_5249557delinsAG , CM000673.2:g.5249556_5249557delinsAG	GRCh38
NC_000011.9:g.5270786_5270787delinsAG , CM000673.1:g.5270786_5270787delinsAG	GRCh37
NC_000011.8:g.5227362_5227363delinsAG	NCBI36
NG_000007.3:g.48059_48060delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.126_127delinsCT (HBG1) MANE Select	ENSP00000327431.4:p.Phe42=
ENST00000642908.1:c.316-1070_316-1069delinsCT	ENSP00000495346.1:n.316-1070_316-1069delinsCT
ENST00000647543.1:c.379-1070_379-1069delinsCT	ENSP00000496470.1:n.379-1070_379-1069delinsCT
ENST00000648735.1:n.177_178delinsCT (HBG1)
ENST00000330597.3:c.126_127delinsCT (HBG1)	ENSP00000327431.3:p.Phe42=
ENST00000620888.4:c.316-1070_316-1069delinsCT (HBG2)	ENSP00000479637.1:n.316-1070_316-1069delinsCT
ENST00000623781.1:c.228_229delinsAG	ENSP00000485381.1:p.Lys76=
ENST00000632727.1:c.88_89delinsCT (HBG1)	ENSP00000488759.1:p.Leu30=
NM_000559.2:c.126_127delinsCT (HBG1)	NP_000550.2:p.Phe42=
NM_000559.3:c.126_127delinsCT (HBG1) MANE Select	NP_000550.2:p.Phe42=