Canonical Allele Identifier: CA125448
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15560
ClinVar RCV Id: RCV000016826
dbSNP Id: rs63751218

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226671_5226675delinsA , CM000673.2:g.5226671_5226675delinsA GRCh38
NC_000011.9:g.5247901_5247905delinsA , CM000673.1:g.5247901_5247905delinsA GRCh37
NC_000011.8:g.5204477_5204481delinsA NCBI36
NG_000007.3:g.70941_70945delinsT
NG_059281.1:g.5397_5401delinsT

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.217_221delinsT VV NP_000509.1:p.Ser73LeufsTer16
NM_000518.5:c.217_221delinsT VV MANE Preferred NP_000509.1:p.Ser73LeufsTer16
ENST00000335295.4:c.217_221delinsT ENSP00000333994.3:p.Ser73LeufsTer16
ENST00000380315.2:c.217_221delinsT ENSP00000369671.2:p.Ser73LeufsTer16
ENST00000475226.1:n.149_153delinsT
ENST00000485743.1:n.268_272delinsT
ENST00000633227.1:c.*33_*37delinsT ENSP00000488004.1:p.=