Canonical Allele Identifier: CA1949569807

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226821_5226823delinsAAT , CM000673.2:g.5226821_5226823delinsAAT	GRCh38
NC_000011.9:g.5248051_5248053delinsAAT , CM000673.1:g.5248051_5248053delinsAAT	GRCh37
NC_000011.8:g.5204627_5204629delinsAAT	NCBI36
NG_000007.3:g.70793_70795delinsATT
NG_059281.1:g.5249_5251delinsATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-24_93-22delinsATT	ENSP00000494175.1:n.93-24_93-22delinsATT
ENST00000335295.4:c.93-24_93-22delinsATT MANE Select	ENSP00000333994.3:n.93-24_93-22delinsATT
ENST00000380315.2:c.93-24_93-22delinsATT	ENSP00000369671.2:n.93-24_93-22delinsATT
ENST00000475226.1:n.1_3delinsATT
ENST00000485743.1:n.144-24_144-22delinsATT
ENST00000633227.1:c.77-24_77-22delinsATT	ENSP00000488004.1:n.77-24_77-22delinsATT
NM_000518.4:c.93-24_93-22delinsATT	NP_000509.1:n.93-24_93-22delinsATT
NM_000518.5:c.93-24_93-22delinsATT MANE Select	NP_000509.1:n.93-24_93-22delinsATT