Canonical Allele Identifier: CA2580083903

Gene: HBB

Linked Data

• ClinVar Variation Id: 15475
• ClinVar RCV Id: RCV000016733

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225487_5225488insC , CM000673.2:g.5225487_5225488insC	GRCh38
NC_000011.9:g.5246717_5246718insC , CM000673.1:g.5246717_5246718insC	GRCh37
NC_000011.8:g.5203293_5203294insC	NCBI36
NG_000007.3:g.72128_72129insG
NG_059281.1:g.6584_6585insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*110_*111insG	ENSP00000494175.1:n.*110_*111insG
ENST00000335295.4:c.*110_*111insG MANE Select	ENSP00000333994.3:n.*110_*111insG
ENST00000633227.1:c.*370_*371insG	ENSP00000488004.1:n.*370_*371insG
NM_000518.4:c.*110_*111insG	NP_000509.1:n.*110_*111insG
NM_000518.5:c.*110_*111insG MANE Select	NP_000509.1:n.*110_*111insG