Canonical Allele Identifier: CA2574735598

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226553del , CM000673.2:g.5226553del	GRCh38
NC_000011.9:g.5247783del , CM000673.1:g.5247783del	GRCh37
NC_000011.8:g.5204359del	NCBI36
NG_000007.3:g.71066del
NG_059281.1:g.5522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+27del	ENSP00000494175.1:n.315+27del
ENST00000335295.4:c.315+27del MANE Select	ENSP00000333994.3:n.315+27del
ENST00000475226.1:n.247+27del
ENST00000485743.1:n.393del
ENST00000633227.1:c.*131+27del	ENSP00000488004.1:n.*131+27del
NM_000518.4:c.315+27del	NP_000509.1:n.315+27del
NM_000518.5:c.315+27del MANE Select	NP_000509.1:n.315+27del