Canonical Allele Identifier: CA217114560
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2681976
ClinVar RCV Id: RCV003477268
dbSNP Id: rs281865474
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226779del , CM000673.2:g.5226779del GRCh38
NC_000011.9:g.5248009del , CM000673.1:g.5248009del GRCh37
NC_000011.8:g.5204585del NCBI36
NG_000007.3:g.70838del
NG_059281.1:g.5294del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.114del ENSP00000494175.1:p.Trp38Ter
ENST00000335295.4:c.114del MANE Select ENSP00000333994.3:p.Trp38Ter
ENST00000380315.2:c.114del ENSP00000369671.2:p.Trp38Ter
ENST00000475226.1:n.46del
ENST00000485743.1:n.165del
ENST00000633227.1:c.98del ENSP00000488004.1:p.Gly33AspfsTer6
NM_000518.4:c.114del NP_000509.1:p.Trp38Ter
NM_000518.5:c.114del MANE Select NP_000509.1:p.Trp38Ter
Search 100 bp 5'
Search 100 bp 3'