Canonical Allele Identifier: CA217113394

Gene: HBB

Linked Data

• ClinVar Variation Id: 869353
• ClinVar RCV Id: RCV001078423
• dbSNP Id: rs63750774

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226578del , CM000673.2:g.5226578del	GRCh38
NC_000011.9:g.5247808del , CM000673.1:g.5247808del	GRCh37
NC_000011.8:g.5204384del	NCBI36
NG_000007.3:g.71040del
NG_059281.1:g.5496del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+1del
ENST00000335295.4:c.315+1del
ENST00000475226.1:n.247+1del
ENST00000485743.1:n.367del
ENST00000633227.1:c.*131+1del
NM_000518.4:c.315+1del
NM_000518.5:c.315+1del