Canonical Allele Identifier: CA1949566373

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226190_5226195delinsATAAAG , CM000673.2:g.5226190_5226195delinsATAAAG	GRCh38
NC_000011.9:g.5247420_5247425delinsATAAAG , CM000673.1:g.5247420_5247425delinsATAAAG	GRCh37
NC_000011.8:g.5203996_5204001delinsATAAAG	NCBI36
NG_000007.3:g.71421_71426delinsCTTTAT
NG_059281.1:g.5877_5882delinsCTTTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+382_315+387delinsCTTTAT	ENSP00000494175.1:n.315+382_315+387delinsCTTTAT
ENST00000335295.4:c.315+382_315+387delinsCTTTAT MANE Select	ENSP00000333994.3:n.315+382_315+387delinsCTTTAT
ENST00000475226.1:n.247+382_247+387delinsCTTTAT
ENST00000633227.1:c.*131+382_*131+387delinsCTTTAT	ENSP00000488004.1:n.*131+382_*131+387delinsCTTTAT
NM_000518.4:c.315+382_315+387delinsCTTTAT	NP_000509.1:n.315+382_315+387delinsCTTTAT
NM_000518.5:c.315+382_315+387delinsCTTTAT MANE Select	NP_000509.1:n.315+382_315+387delinsCTTTAT