Canonical Allele Identifier: CA2574735599

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226559del , CM000673.2:g.5226559del	GRCh38
NC_000011.9:g.5247789del , CM000673.1:g.5247789del	GRCh37
NC_000011.8:g.5204365del	NCBI36
NG_000007.3:g.71058del
NG_059281.1:g.5514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+19del	ENSP00000494175.1:n.315+19del
ENST00000335295.4:c.315+19del MANE Select	ENSP00000333994.3:n.315+19del
ENST00000475226.1:n.247+19del
ENST00000485743.1:n.385del
ENST00000633227.1:c.*131+19del	ENSP00000488004.1:n.*131+19del
NM_000518.4:c.315+19del	NP_000509.1:n.315+19del
NM_000518.5:c.315+19del MANE Select	NP_000509.1:n.315+19del