Canonical Allele Identifier: CA1949566350

Gene: HBB

Linked Data

• dbSNP Id: rs908075557

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226185_5226190del , CM000673.2:g.5226185_5226190del	GRCh38
NC_000011.9:g.5247415_5247420del , CM000673.1:g.5247415_5247420del	GRCh37
NC_000011.8:g.5203991_5203996del	NCBI36
NG_000007.3:g.71429_71434del
NG_059281.1:g.5885_5890del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+390_315+395del	ENSP00000494175.1:n.315+390_315+395del
ENST00000335295.4:c.315+390_315+395del MANE Select	ENSP00000333994.3:n.315+390_315+395del
ENST00000475226.1:n.247+390_247+395del
ENST00000633227.1:c.*131+390_*131+395del	ENSP00000488004.1:n.*131+390_*131+395del
NM_000518.4:c.315+390_315+395del	NP_000509.1:n.315+390_315+395del
NM_000518.5:c.315+390_315+395del MANE Select	NP_000509.1:n.315+390_315+395del