Canonical Allele Identifier: CA217112743
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15600
ClinVar RCV Id: RCV001731306
dbSNP Id: rs281865477

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225702del , CM000673.2:g.5225702del GRCh38
NC_000011.9:g.5246932del , CM000673.1:g.5246932del GRCh37
NC_000011.8:g.5203508del NCBI36
NG_000007.3:g.71914del
NG_059281.1:g.6370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.340del ENSP00000494175.1:p.Val114CysfsTer?
ENST00000335295.4:c.340del MANE Select ENSP00000333994.3:p.Val114CysfsTer?
ENST00000475226.1:n.272del
ENST00000633227.1:c.*156del ENSP00000488004.1:n.*156del
NM_000518.4:c.340del NP_000509.1:p.Val114CysfsTer?
NM_000518.5:c.340del MANE Select NP_000509.1:p.Val114CysfsTer?