Canonical Allele Identifier: CA125306

Gene: HBB

Linked Data

• ClinVar Variation Id: 15441
• ClinVar RCV Id: RCV000016699 ; RCV001078335
• dbSNP Id: rs1554918032
• MyVariant Identifiers: chr11:g.5248030_5248046del (hg19) ; chr11:g.5226800_5226816del (hg38)
• PubMed: PMID:6714226

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226800_5226816del , CM000673.2:g.5226800_5226816del	GRCh38
NC_000011.9:g.5248030_5248046del , CM000673.1:g.5248030_5248046del	GRCh37
NC_000011.8:g.5204606_5204622del	NCBI36
NG_000007.3:g.70800_70816del
NG_059281.1:g.5256_5272del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-17_93-1del	ENSP00000494175.1:n.93-17_93-1del
ENST00000335295.4:c.93-17_93-1del MANE Select	ENSP00000333994.3:n.93-17_93-1del
ENST00000380315.2:c.93-17_93-1del	ENSP00000369671.2:n.93-17_93-1del
ENST00000475226.1:n.8_24del
ENST00000485743.1:n.144-17_144-1del
ENST00000633227.1:c.77-17_77-1del	ENSP00000488004.1:n.77-17_77-1del
NM_000518.4:c.93-17_93-1del	NP_000509.1:n.93-17_93-1del
NM_000518.5:c.93-17_93-1del MANE Select	NP_000509.1:n.93-17_93-1del