Canonical Allele Identifier: CA1949566836

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226385_5226389delinsTAAAC , CM000673.2:g.5226385_5226389delinsTAAAC	GRCh38
NC_000011.9:g.5247615_5247619delinsTAAAC , CM000673.1:g.5247615_5247619delinsTAAAC	GRCh37
NC_000011.8:g.5204191_5204195delinsTAAAC	NCBI36
NG_000007.3:g.71227_71231delinsGTTTA
NG_059281.1:g.5683_5687delinsGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+188_315+192delinsGTTTA	ENSP00000494175.1:n.315+188_315+192delinsGTTTA
ENST00000335295.4:c.315+188_315+192delinsGTTTA MANE Select	ENSP00000333994.3:n.315+188_315+192delinsGTTTA
ENST00000475226.1:n.247+188_247+192delinsGTTTA
ENST00000485743.1:n.554_558delinsGTTTA
ENST00000633227.1:c.*131+188_*131+192delinsGTTTA	ENSP00000488004.1:n.*131+188_*131+192delinsGTTTA
NM_000518.4:c.315+188_315+192delinsGTTTA	NP_000509.1:n.315+188_315+192delinsGTTTA
NM_000518.5:c.315+188_315+192delinsGTTTA MANE Select	NP_000509.1:n.315+188_315+192delinsGTTTA