Canonical Allele Identifier: CA1949566364

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226186_5226191delinsGAAAAT , CM000673.2:g.5226186_5226191delinsGAAAAT	GRCh38
NC_000011.9:g.5247416_5247421delinsGAAAAT , CM000673.1:g.5247416_5247421delinsGAAAAT	GRCh37
NC_000011.8:g.5203992_5203997delinsGAAAAT	NCBI36
NG_000007.3:g.71425_71430delinsATTTTC
NG_059281.1:g.5881_5886delinsATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+386_315+391delinsATTTTC	ENSP00000494175.1:n.315+386_315+391delinsATTTTC
ENST00000335295.4:c.315+386_315+391delinsATTTTC MANE Select	ENSP00000333994.3:n.315+386_315+391delinsATTTTC
ENST00000475226.1:n.247+386_247+391delinsATTTTC
ENST00000633227.1:c.*131+386_*131+391delinsATTTTC	ENSP00000488004.1:n.*131+386_*131+391delinsATTTTC
NM_000518.4:c.315+386_315+391delinsATTTTC	NP_000509.1:n.315+386_315+391delinsATTTTC
NM_000518.5:c.315+386_315+391delinsATTTTC MANE Select	NP_000509.1:n.315+386_315+391delinsATTTTC