Canonical Allele Identifier: CA1949563696

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225486_5225488delinsTTA , CM000673.2:g.5225486_5225488delinsTTA	GRCh38
NC_000011.9:g.5246716_5246718delinsTTA , CM000673.1:g.5246716_5246718delinsTTA	GRCh37
NC_000011.8:g.5203292_5203294delinsTTA	NCBI36
NG_000007.3:g.72128_72130delinsTAA
NG_059281.1:g.6584_6586delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*110_*112delinsTAA	ENSP00000494175.1:n.*110_*112delinsTAA
ENST00000335295.4:c.*110_*112delinsTAA MANE Select	ENSP00000333994.3:n.*110_*112delinsTAA
ENST00000633227.1:c.*370_*372delinsTAA	ENSP00000488004.1:n.*370_*372delinsTAA
NM_000518.4:c.*110_*112delinsTAA	NP_000509.1:n.*110_*112delinsTAA
NM_000518.5:c.*110_*112delinsTAA MANE Select	NP_000509.1:n.*110_*112delinsTAA