Canonical Allele Identifier: CA2612162036

Gene: HBB

Linked Data

• gnomAD v4: 11-5226363-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226371_5226372dup , CM000673.2:g.5226371_5226372dup	GRCh38
NC_000011.9:g.5247601_5247602dup , CM000673.1:g.5247601_5247602dup	GRCh37
NC_000011.8:g.5204177_5204178dup	NCBI36
NG_000007.3:g.71251_71252dup
NG_059281.1:g.5707_5708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+212_315+213dup	ENSP00000494175.1:n.315+212_315+213dup
ENST00000335295.4:c.315+212_315+213dup MANE Select	ENSP00000333994.3:n.315+212_315+213dup
ENST00000475226.1:n.247+212_247+213dup
ENST00000485743.1:n.578_579dup
ENST00000633227.1:c.*131+212_*131+213dup	ENSP00000488004.1:n.*131+212_*131+213dup
NM_000518.4:c.315+212_315+213dup	NP_000509.1:n.315+212_315+213dup
NM_000518.5:c.315+212_315+213dup MANE Select	NP_000509.1:n.315+212_315+213dup