Canonical Allele Identifier: CA1949567082

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226510_5226511delinsTC , CM000673.2:g.5226510_5226511delinsTC	GRCh38
NC_000011.9:g.5247740_5247741delinsTC , CM000673.1:g.5247740_5247741delinsTC	GRCh37
NC_000011.8:g.5204316_5204317delinsTC	NCBI36
NG_000007.3:g.71105_71106delinsGA
NG_059281.1:g.5561_5562delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+66_315+67delinsGA	ENSP00000494175.1:n.315+66_315+67delinsGA
ENST00000335295.4:c.315+66_315+67delinsGA MANE Select	ENSP00000333994.3:n.315+66_315+67delinsGA
ENST00000475226.1:n.247+66_247+67delinsGA
ENST00000485743.1:n.432_433delinsGA
ENST00000633227.1:c.*131+66_*131+67delinsGA	ENSP00000488004.1:n.*131+66_*131+67delinsGA
NM_000518.4:c.315+66_315+67delinsGA	NP_000509.1:n.315+66_315+67delinsGA
NM_000518.5:c.315+66_315+67delinsGA MANE Select	NP_000509.1:n.315+66_315+67delinsGA