Canonical Allele Identifier: CA2574735565

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225721del , CM000673.2:g.5225721del	GRCh38
NC_000011.9:g.5246951del , CM000673.1:g.5246951del	GRCh37
NC_000011.8:g.5203527del	NCBI36
NG_000007.3:g.71897del
NG_059281.1:g.6353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.323del	ENSP00000494175.1:p.Gly108AlafsTer?
ENST00000335295.4:c.323del MANE Select	ENSP00000333994.3:p.Gly108AlafsTer?
ENST00000475226.1:n.255del
ENST00000633227.1:c.*139del	ENSP00000488004.1:n.*139del
NM_000518.4:c.323del	NP_000509.1:p.Gly108AlafsTer?
NM_000518.5:c.323del MANE Select	NP_000509.1:p.Gly108AlafsTer?