Canonical Allele Identifier: CA125416
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15538
dbSNP Id: rs63749918

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226948_5226950del , CM000673.2:g.5226948_5226950del GRCh38
NC_000011.9:g.5248178_5248180del , CM000673.1:g.5248178_5248180del GRCh37
NC_000011.8:g.5204754_5204756del NCBI36
NG_000007.3:g.70671_70673del
NG_059281.1:g.5127_5129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.77_79del ENSP00000494175.1:p.Gly26del
ENST00000335295.4:c.77_79del MANE Select ENSP00000333994.3:p.Gly26del
ENST00000380315.2:c.77_79del ENSP00000369671.2:p.Gly26del
ENST00000485743.1:n.128_130del
ENST00000633227.1:c.76+1_76+3del
NM_000518.4:c.77_79del NP_000509.1:p.Gly26del
NM_000518.5:c.77_79del MANE Select NP_000509.1:p.Gly26del