Canonical Allele Identifier: CA916083218
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869232
ClinVar RCV Id: RCV001078262
dbSNP Id: rs1847586938
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226990_5227002del , CM000673.2:g.5226990_5227002del GRCh38
NC_000011.9:g.5248220_5248232del , CM000673.1:g.5248220_5248232del GRCh37
NC_000011.8:g.5204796_5204808del NCBI36
NG_000007.3:g.70614_70626del
NG_059281.1:g.5070_5082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.20_32del ENSP00000494175.1:p.Glu7AlafsTer9
ENST00000335295.4:c.20_32del MANE Select ENSP00000333994.3:p.Glu7AlafsTer9
ENST00000380315.2:c.20_32del ENSP00000369671.2:p.Glu7AlafsTer9
ENST00000485743.1:n.71_83del
ENST00000633227.1:c.20_32del ENSP00000488004.1:p.Glu7AlafsTer9
NM_000518.4:c.20_32del NP_000509.1:p.Glu7AlafsTer9
NM_000518.5:c.20_32del MANE Select NP_000509.1:p.Glu7AlafsTer9
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