Canonical Allele Identifier: CA1949566794

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226369_5226373delinsAAAAG , CM000673.2:g.5226369_5226373delinsAAAAG	GRCh38
NC_000011.9:g.5247599_5247603delinsAAAAG , CM000673.1:g.5247599_5247603delinsAAAAG	GRCh37
NC_000011.8:g.5204175_5204179delinsAAAAG	NCBI36
NG_000007.3:g.71243_71247delinsCTTTT
NG_059281.1:g.5699_5703delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+204_315+208delinsCTTTT	ENSP00000494175.1:n.315+204_315+208delinsCTTTT
ENST00000335295.4:c.315+204_315+208delinsCTTTT MANE Select	ENSP00000333994.3:n.315+204_315+208delinsCTTTT
ENST00000475226.1:n.247+204_247+208delinsCTTTT
ENST00000485743.1:n.570_574delinsCTTTT
ENST00000633227.1:c.*131+204_*131+208delinsCTTTT	ENSP00000488004.1:n.*131+204_*131+208delinsCTTTT
NM_000518.4:c.315+204_315+208delinsCTTTT	NP_000509.1:n.315+204_315+208delinsCTTTT
NM_000518.5:c.315+204_315+208delinsCTTTT MANE Select	NP_000509.1:n.315+204_315+208delinsCTTTT