Canonical Allele Identifier: CA2695213074
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 3068889
ClinVar RCV Id: RCV003994949
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227003del , CM000673.2:g.5227003del GRCh38
NC_000011.9:g.5248233del , CM000673.1:g.5248233del GRCh37
NC_000011.8:g.5204809del NCBI36
NG_000007.3:g.70613del
NG_059281.1:g.5069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.19del ENSP00000494175.1:p.Glu7ArgfsTer13
ENST00000335295.4:c.19del MANE Select ENSP00000333994.3:p.Glu7ArgfsTer13
ENST00000380315.2:c.19del ENSP00000369671.2:p.Glu7ArgfsTer13
ENST00000485743.1:n.70del
ENST00000633227.1:c.19del ENSP00000488004.1:p.Glu7ArgfsTer13
NM_000518.4:c.19del NP_000509.1:p.Glu7ArgfsTer13
NM_000518.5:c.19del MANE Select NP_000509.1:p.Glu7ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'