Canonical Allele Identifier: CA1949566844

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226389_5226394delinsCAAAAG , CM000673.2:g.5226389_5226394delinsCAAAAG	GRCh38
NC_000011.9:g.5247619_5247624delinsCAAAAG , CM000673.1:g.5247619_5247624delinsCAAAAG	GRCh37
NC_000011.8:g.5204195_5204200delinsCAAAAG	NCBI36
NG_000007.3:g.71222_71227delinsCTTTTG
NG_059281.1:g.5678_5683delinsCTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+183_315+188delinsCTTTTG	ENSP00000494175.1:n.315+183_315+188delinsCTTTTG
ENST00000335295.4:c.315+183_315+188delinsCTTTTG MANE Select	ENSP00000333994.3:n.315+183_315+188delinsCTTTTG
ENST00000475226.1:n.247+183_247+188delinsCTTTTG
ENST00000485743.1:n.549_554delinsCTTTTG
ENST00000633227.1:c.*131+183_*131+188delinsCTTTTG	ENSP00000488004.1:n.*131+183_*131+188delinsCTTTTG
NM_000518.4:c.315+183_315+188delinsCTTTTG	NP_000509.1:n.315+183_315+188delinsCTTTTG
NM_000518.5:c.315+183_315+188delinsCTTTTG MANE Select	NP_000509.1:n.315+183_315+188delinsCTTTTG