Canonical Allele Identifier: CA125280
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15414
dbSNP Id: rs35662066

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226971del , CM000673.2:g.5226971del GRCh38
NC_000011.9:g.5248201del , CM000673.1:g.5248201del GRCh37
NC_000011.8:g.5204777del NCBI36
NG_000007.3:g.70645del
NG_059281.1:g.5101del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.51del ENSP00000494175.1:p.Lys18ArgfsTer2
ENST00000335295.4:c.51del MANE Select ENSP00000333994.3:p.Lys18ArgfsTer2
ENST00000380315.2:c.51del ENSP00000369671.2:p.Lys18ArgfsTer2
ENST00000485743.1:n.102del
ENST00000633227.1:c.51del ENSP00000488004.1:p.Lys18ArgfsTer2
NM_000518.4:c.51del NP_000509.1:p.Lys18ArgfsTer2
NM_000518.5:c.51del MANE Select NP_000509.1:p.Lys18ArgfsTer2