Canonical Allele Identifier: CA1949566739

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226363_5226367delinsGAAAA , CM000673.2:g.5226363_5226367delinsGAAAA	GRCh38
NC_000011.9:g.5247593_5247597delinsGAAAA , CM000673.1:g.5247593_5247597delinsGAAAA	GRCh37
NC_000011.8:g.5204169_5204173delinsGAAAA	NCBI36
NG_000007.3:g.71249_71253delinsTTTTC
NG_059281.1:g.5705_5709delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+210_315+214delinsTTTTC	ENSP00000494175.1:n.315+210_315+214delinsTTTTC
ENST00000335295.4:c.315+210_315+214delinsTTTTC MANE Select	ENSP00000333994.3:n.315+210_315+214delinsTTTTC
ENST00000475226.1:n.247+210_247+214delinsTTTTC
ENST00000485743.1:n.576_580delinsTTTTC
ENST00000633227.1:c.*131+210_*131+214delinsTTTTC	ENSP00000488004.1:n.*131+210_*131+214delinsTTTTC
NM_000518.4:c.315+210_315+214delinsTTTTC	NP_000509.1:n.315+210_315+214delinsTTTTC
NM_000518.5:c.315+210_315+214delinsTTTTC MANE Select	NP_000509.1:n.315+210_315+214delinsTTTTC