Canonical Allele Identifier: CA916083210
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 869361
ClinVar RCV Id: RCV001078433
dbSNP Id: rs1847582194

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226949del , CM000673.2:g.5226949del GRCh38
NC_000011.9:g.5248179del , CM000673.1:g.5248179del GRCh37
NC_000011.8:g.5204755del NCBI36
NG_000007.3:g.70668del
NG_059281.1:g.5124del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.74del ENSP00000494175.1:p.Gly25ValfsTer?
ENST00000335295.4:c.74del MANE Select ENSP00000333994.3:p.Gly25ValfsTer?
ENST00000380315.2:c.74del ENSP00000369671.2:p.Gly25ValfsTer?
ENST00000485743.1:n.125del
ENST00000633227.1:c.74del ENSP00000488004.1:p.Gly25ValfsTer14
NM_000518.4:c.74del NP_000509.1:p.Gly25ValfsTer?
NM_000518.5:c.74del MANE Select NP_000509.1:p.Gly25ValfsTer?