Canonical Allele Identifier: CA210559

Gene: HBB

Linked Data

• ClinVar Variation Id: 15432
• ClinVar RCV Id: RCV000016689 ; RCV000169441 ; RCV000508423 ; RCV000780308 ; RCV001004352
• dbSNP Id: rs35532010
• gnomAD v4: 11-5226936-A-AG
• MyVariant Identifiers: chr11:g.5248168dupG (hg19) ; chr11:g.5248166_5248167insG (hg19) ; chr11:g.5226938dupG (hg38) ; chr11:g.5226936_5226937insG (hg38)
• PubMed: PMID:1850955 ; PMID:2014803 ; PMID:2298920 ; PMID:21599435 ; PMID:23383304 ; PMID:25000193

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226939dup , CM000673.2:g.5226939dup	GRCh38
NC_000011.9:g.5248169dup , CM000673.1:g.5248169dup	GRCh37
NC_000011.8:g.5204745dup	NCBI36
NG_000007.3:g.70679dup
NG_059281.1:g.5135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.85dup	ENSP00000494175.1:p.Leu29ProfsTer16
ENST00000335295.4:c.85dup MANE Select	ENSP00000333994.3:p.Leu29ProfsTer16
ENST00000380315.2:c.85dup	ENSP00000369671.2:p.Leu29ProfsTer16
ENST00000485743.1:n.136dup
ENST00000633227.1:c.76+9dup	ENSP00000488004.1:n.76+9dup
NM_000518.4:c.85dup	NP_000509.1:p.Leu29ProfsTer16
NM_000518.5:c.85dup MANE Select	NP_000509.1:p.Leu29ProfsTer16