Canonical Allele Identifier: CA645509062

Gene: HBB

Linked Data

• ClinVar Variation Id: 439137
• ClinVar RCV Id: RCV000508169
• dbSNP Id: rs1554917935
• MyVariant Identifiers: chr11:g.5247960del (hg19) ; chr11:g.5226730del (hg38)
• PubMed: PMID:18381244

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226730del , CM000673.2:g.5226730del	GRCh38
NC_000011.9:g.5247960del , CM000673.1:g.5247960del	GRCh37
NC_000011.8:g.5204536del	NCBI36
NG_000007.3:g.70886del
NG_059281.1:g.5342del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.162del	ENSP00000494175.1:p.Val55LeufsTer7
ENST00000335295.4:c.162del MANE Select	ENSP00000333994.3:p.Val55LeufsTer7
ENST00000380315.2:c.162del	ENSP00000369671.2:p.Val55LeufsTer7
ENST00000475226.1:n.94del
ENST00000485743.1:n.213del
ENST00000633227.1:c.146del	ENSP00000488004.1:p.Leu49ArgfsTer6
NM_000518.4:c.162del	NP_000509.1:p.Val55LeufsTer7
NM_000518.5:c.162del MANE Select	NP_000509.1:p.Val55LeufsTer7