Canonical Allele Identifier: CA2739276139

Gene: HBB

Linked Data

• ClinVar Variation Id: 2849928
• ClinVar RCV Id: RCV003688066

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226046dup , CM000673.2:g.5226046dup	GRCh38
NC_000011.9:g.5247276dup , CM000673.1:g.5247276dup	GRCh37
NC_000011.8:g.5203852dup	NCBI36
NG_000007.3:g.71575dup
NG_059281.1:g.6031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-315dup	ENSP00000494175.1:n.316-315dup
ENST00000335295.4:c.316-315dup MANE Select	ENSP00000333994.3:n.316-315dup
ENST00000475226.1:n.248-315dup
ENST00000633227.1:c.*132-315dup	ENSP00000488004.1:n.*132-315dup
NM_000518.4:c.316-315dup	NP_000509.1:n.316-315dup
NM_000518.5:c.316-315dup MANE Select	NP_000509.1:n.316-315dup