Canonical Allele Identifier: CA2843640260

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225532dup , CM000673.2:g.5225532dup	GRCh38
NC_000011.9:g.5246762dup , CM000673.1:g.5246762dup	GRCh37
NC_000011.8:g.5203338dup	NCBI36
NG_000007.3:g.72084dup
NG_059281.1:g.6540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*66dup	ENSP00000494175.1:n.*66dup
ENST00000335295.4:c.*66dup MANE Select	ENSP00000333994.3:n.*66dup
ENST00000633227.1:c.*326dup	ENSP00000488004.1:n.*326dup
NM_000518.4:c.*66dup	NP_000509.1:n.*66dup
NM_000518.5:c.*66dup MANE Select	NP_000509.1:n.*66dup