Canonical Allele Identifier: CA217113884
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 632846
ClinVar RCV Id: RCV001001032
dbSNP Id: rs281865475
MyVariant Identifiers: chr11:g.5247887del (hg19) chr11:g.5226657del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226658del , CM000673.2:g.5226658del GRCh38
NC_000011.9:g.5247888del , CM000673.1:g.5247888del GRCh37
NC_000011.8:g.5204464del NCBI36
NG_000007.3:g.70959del
NG_059281.1:g.5415del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.235del ENSP00000494175.1:p.Leu79TrpfsTer11
ENST00000335295.4:c.235del MANE Select ENSP00000333994.3:p.Leu79TrpfsTer11
ENST00000380315.2:c.235del ENSP00000369671.2:p.Leu79TrpfsTer11
ENST00000475226.1:n.167del
ENST00000485743.1:n.286del
ENST00000633227.1:c.*51del ENSP00000488004.1:n.*51del
NM_000518.4:c.235del NP_000509.1:p.Leu79TrpfsTer11
NM_000518.5:c.235del MANE Select NP_000509.1:p.Leu79TrpfsTer11
Search 100 bp 5'
Search 100 bp 3'