Canonical Allele Identifier: CA217112278
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869318
ClinVar RCV Id: RCV001078380
dbSNP Id: rs281864497
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225613_5225614del , CM000673.2:g.5225613_5225614del GRCh38
NC_000011.9:g.5246843_5246844del , CM000673.1:g.5246843_5246844del GRCh37
NC_000011.8:g.5203419_5203420del NCBI36
NG_000007.3:g.72003_72004del
NG_059281.1:g.6459_6460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.429_430del ENSP00000494175.1:p.His144GlnfsTer21
ENST00000335295.4:c.429_430del MANE Select ENSP00000333994.3:p.His144GlnfsTer21
ENST00000633227.1:c.*245_*246del ENSP00000488004.1:n.*245_*246del
NM_000518.4:c.429_430del NP_000509.1:p.His144GlnfsTer21
NM_000518.5:c.429_430del MANE Select NP_000509.1:p.His144GlnfsTer21
Search 100 bp 5'
Search 100 bp 3'