Canonical Allele Identifier: CA125440

Gene: HBB

Linked Data

• ClinVar Variation Id: 869322
• ClinVar RCV Id: RCV001078385 ; RCV001732037
• dbSNP Id: rs35348864
• MyVariant Identifiers: chr11:g.5248028_5248029insCCG (hg19) ; chr11:g.5226798_5226799insCCG (hg38)
• PubMed: PMID:8703815

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226798_5226800dup , CM000673.2:g.5226798_5226800dup	GRCh38
NC_000011.9:g.5248028_5248030dup , CM000673.1:g.5248028_5248030dup	GRCh37
NC_000011.8:g.5204604_5204606dup	NCBI36
NG_000007.3:g.70816_70818dup
NG_059281.1:g.5272_5274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-1_94dup
ENST00000335295.4:c.93-1_94dup
ENST00000380315.2:c.93-1_94dup
ENST00000475226.1:n.24_26dup
ENST00000485743.1:n.144-1_145dup
ENST00000633227.1:c.77-1_78dup
NM_000518.4:c.93-1_94dup
NM_000518.5:c.93-1_94dup