Canonical Allele Identifier: CA2573147108

Gene: HBB

Linked Data

• ClinVar Variation Id: 1563749
• ClinVar RCV Id: RCV002209461
• dbSNP Id: rs2133586678

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225895_5225910dup , CM000673.2:g.5225895_5225910dup	GRCh38
NC_000011.9:g.5247125_5247140dup , CM000673.1:g.5247125_5247140dup	GRCh37
NC_000011.8:g.5203701_5203716dup	NCBI36
NG_000007.3:g.71719_71734dup
NG_059281.1:g.6175_6190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-171_316-156dup	ENSP00000494175.1:n.316-171_316-156dup
ENST00000335295.4:c.316-171_316-156dup MANE Select	ENSP00000333994.3:n.316-171_316-156dup
ENST00000475226.1:n.248-171_248-156dup
ENST00000633227.1:c.*132-171_*132-156dup	ENSP00000488004.1:n.*132-171_*132-156dup
NM_000518.4:c.316-171_316-156dup	NP_000509.1:n.316-171_316-156dup
NM_000518.5:c.316-171_316-156dup MANE Select	NP_000509.1:n.316-171_316-156dup