Canonical Allele Identifier: CA1949566362

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226185_5226186delinsAG , CM000673.2:g.5226185_5226186delinsAG	GRCh38
NC_000011.9:g.5247415_5247416delinsAG , CM000673.1:g.5247415_5247416delinsAG	GRCh37
NC_000011.8:g.5203991_5203992delinsAG	NCBI36
NG_000007.3:g.71430_71431delinsCT
NG_059281.1:g.5886_5887delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+391_315+392delinsCT	ENSP00000494175.1:n.315+391_315+392delinsCT
ENST00000335295.4:c.315+391_315+392delinsCT MANE Select	ENSP00000333994.3:n.315+391_315+392delinsCT
ENST00000475226.1:n.247+391_247+392delinsCT
ENST00000633227.1:c.*131+391_*131+392delinsCT	ENSP00000488004.1:n.*131+391_*131+392delinsCT
NM_000518.4:c.315+391_315+392delinsCT	NP_000509.1:n.315+391_315+392delinsCT
NM_000518.5:c.315+391_315+392delinsCT MANE Select	NP_000509.1:n.315+391_315+392delinsCT