Canonical Allele Identifier: CA125287

Gene: HBB

Linked Data

• ClinVar Variation Id: 15420
• ClinVar RCV Id: RCV000016676 ; RCV000169256 ; RCV000508493
• dbSNP Id: rs281864901
• MyVariant Identifiers: chr11:g.5247892del (hg19) ; chr11:g.5226662del (hg38)
• PubMed: PMID:1734721 ; PMID:3408672 ; PMID:7558879 ; PMID:7759073 ; PMID:20704537 ; PMID:22271886 ; PMID:22983591 ; PMID:25480500 ; PMID:26076395

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226662del , CM000673.2:g.5226662del	GRCh38
NC_000011.9:g.5247892del , CM000673.1:g.5247892del	GRCh37
NC_000011.8:g.5204468del	NCBI36
NG_000007.3:g.70954del
NG_059281.1:g.5410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.230del	ENSP00000494175.1:p.Ala77ValfsTer13
ENST00000335295.4:c.230del MANE Select	ENSP00000333994.3:p.Ala77ValfsTer13
ENST00000380315.2:c.230del	ENSP00000369671.2:p.Ala77ValfsTer13
ENST00000475226.1:n.162del
ENST00000485743.1:n.281del
ENST00000633227.1:c.*46del	ENSP00000488004.1:n.*46del
NM_000518.4:c.230del	NP_000509.1:p.Ala77ValfsTer13
NM_000518.5:c.230del MANE Select	NP_000509.1:p.Ala77ValfsTer13