Canonical Allele Identifier: CA1949583866

Gene: HBG1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249690_5249695delinsTTGTCC , CM000673.2:g.5249690_5249695delinsTTGTCC	GRCh38
NC_000011.9:g.5270920_5270925delinsTTGTCC , CM000673.1:g.5270920_5270925delinsTTGTCC	GRCh37
NC_000011.8:g.5227496_5227501delinsTTGTCC	NCBI36
NG_000007.3:g.47921_47926delinsGGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+18_92+23delinsGGACAA (HBG1) MANE Select	ENSP00000327431.4:n.92+18_92+23delinsGGACAA
ENST00000642908.1:c.316-1208_316-1203delinsGGACAA	ENSP00000495346.1:n.316-1208_316-1203delinsGGACAA
ENST00000647543.1:c.379-1208_379-1203delinsGGACAA	ENSP00000496470.1:n.379-1208_379-1203delinsGGACAA
ENST00000648735.1:n.143+18_143+23delinsGGACAA (HBG1)
ENST00000330597.3:c.92+18_92+23delinsGGACAA (HBG1)	ENSP00000327431.3:n.92+18_92+23delinsGGACAA
ENST00000620888.4:c.316-1208_316-1203delinsGGACAA (HBG2)	ENSP00000479637.1:n.316-1208_316-1203delinsGGACAA
ENST00000623781.1:c.265-22_265-17delinsTTGTCC	ENSP00000485381.1:n.265-22_265-17delinsTTGTCC
ENST00000632727.1:c.54+56_54+61delinsGGACAA (HBG1)	ENSP00000488759.1:n.54+56_54+61delinsGGACAA
NM_000559.2:c.92+18_92+23delinsGGACAA (HBG1)	NP_000550.2:n.92+18_92+23delinsGGACAA
NM_000559.3:c.92+18_92+23delinsGGACAA (HBG1) MANE Select	NP_000550.2:n.92+18_92+23delinsGGACAA