Canonical Allele Identifier: CA2612162138

Gene: HBB

Linked Data

• gnomAD v4: 11-5226443-GACTTCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226447_5226454del , CM000673.2:g.5226447_5226454del	GRCh38
NC_000011.9:g.5247677_5247684del , CM000673.1:g.5247677_5247684del	GRCh37
NC_000011.8:g.5204253_5204260del	NCBI36
NG_000007.3:g.71165_71172del
NG_059281.1:g.5621_5628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+126_315+133del	ENSP00000494175.1:n.315+126_315+133del
ENST00000335295.4:c.315+126_315+133del MANE Select	ENSP00000333994.3:n.315+126_315+133del
ENST00000475226.1:n.247+126_247+133del
ENST00000485743.1:n.492_499del
ENST00000633227.1:c.*131+126_*131+133del	ENSP00000488004.1:n.*131+126_*131+133del
NM_000518.4:c.315+126_315+133del	NP_000509.1:n.315+126_315+133del
NM_000518.5:c.315+126_315+133del MANE Select	NP_000509.1:n.315+126_315+133del