Canonical Allele Identifier: CA2612161888

Gene: HBB

Linked Data

• gnomAD v4: 11-5226280-G-GTTACTTAATGTATCTCAGAGATATTTCCTTTTGTTATACACAATGTTAAGGCATTAAGTATAATAGTAAAAATTGCGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226281_5226361dup , CM000673.2:g.5226281_5226361dup	GRCh38
NC_000011.9:g.5247511_5247591dup , CM000673.1:g.5247511_5247591dup	GRCh37
NC_000011.8:g.5204087_5204167dup	NCBI36
NG_000007.3:g.71255_71335dup
NG_059281.1:g.5711_5791dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+216_315+296dup	ENSP00000494175.1:n.315+216_315+296dup
ENST00000335295.4:c.315+216_315+296dup MANE Select	ENSP00000333994.3:n.315+216_315+296dup
ENST00000475226.1:n.247+216_247+296dup
ENST00000485743.1:n.582_662dup
ENST00000633227.1:c.*131+216_*131+296dup	ENSP00000488004.1:n.*131+216_*131+296dup
NM_000518.4:c.315+216_315+296dup	NP_000509.1:n.315+216_315+296dup
NM_000518.5:c.315+216_315+296dup MANE Select	NP_000509.1:n.315+216_315+296dup