Canonical Allele Identifier: CA2790275272

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226510_5226513del , CM000673.2:g.5226510_5226513del	GRCh38
NC_000011.9:g.5247740_5247743del , CM000673.1:g.5247740_5247743del	GRCh37
NC_000011.8:g.5204316_5204319del	NCBI36
NG_000007.3:g.71106_71109del
NG_059281.1:g.5562_5565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+67_315+70del	ENSP00000494175.1:n.315+67_315+70del
ENST00000335295.4:c.315+67_315+70del MANE Select	ENSP00000333994.3:n.315+67_315+70del
ENST00000475226.1:n.247+67_247+70del
ENST00000485743.1:n.433_436del
ENST00000633227.1:c.*131+67_*131+70del	ENSP00000488004.1:n.*131+67_*131+70del
NM_000518.4:c.315+67_315+70del	NP_000509.1:n.315+67_315+70del
NM_000518.5:c.315+67_315+70del MANE Select	NP_000509.1:n.315+67_315+70del