Canonical Allele Identifier: CA217114418
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869338
ClinVar RCV Id: RCV001078406 RCV001420867 RCV001809980
dbSNP Id: rs35133315
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226756del , CM000673.2:g.5226756del GRCh38
NC_000011.9:g.5247986del , CM000673.1:g.5247986del GRCh37
NC_000011.8:g.5204562del NCBI36
NG_000007.3:g.70862del
NG_059281.1:g.5318del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.138del ENSP00000494175.1:p.Phe46LeufsTer16
ENST00000335295.4:c.138del MANE Select ENSP00000333994.3:p.Phe46LeufsTer16
ENST00000380315.2:c.138del ENSP00000369671.2:p.Phe46LeufsTer16
ENST00000475226.1:n.70del
ENST00000485743.1:n.189del
ENST00000633227.1:c.122del ENSP00000488004.1:p.Leu41TrpfsTer7
NM_000518.4:c.138del NP_000509.1:p.Phe46LeufsTer16
NM_000518.5:c.138del MANE Select NP_000509.1:p.Phe46LeufsTer16
Search 100 bp 5'
Search 100 bp 3'