Canonical Allele Identifier: CA645509061
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439143
ClinVar RCV Id: RCV000506042
dbSNP Id: rs1554917831
MyVariant Identifiers: chr11:g.5247869del (hg19) chr11:g.5226639del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226639del , CM000673.2:g.5226639del GRCh38
NC_000011.9:g.5247869del , CM000673.1:g.5247869del GRCh37
NC_000011.8:g.5204445del NCBI36
NG_000007.3:g.70977del
NG_059281.1:g.5433del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.253del ENSP00000494175.1:p.Thr85ProfsTer5
ENST00000335295.4:c.253del MANE Select ENSP00000333994.3:p.Thr85ProfsTer5
ENST00000380315.2:c.253del ENSP00000369671.2:p.Thr85ProfsTer5
ENST00000475226.1:n.185del
ENST00000485743.1:n.304del
ENST00000633227.1:c.*69del ENSP00000488004.1:n.*69del
NM_000518.4:c.253del NP_000509.1:p.Thr85ProfsTer5
NM_000518.5:c.253del MANE Select NP_000509.1:p.Thr85ProfsTer5
Search 100 bp 5'
Search 100 bp 3'