Canonical Allele Identifier: CA125293
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15427
ClinVar RCV Id: RCV000016684 RCV001078349 RCV003114196
dbSNP Id: rs63750099
MyVariant Identifiers: chr11:g.5248002_5248008del (hg19) chr11:g.5226772_5226778del (hg38)
PubMed: PMID:2730955
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226773_5226779del , CM000673.2:g.5226773_5226779del GRCh38
NC_000011.9:g.5248003_5248009del , CM000673.1:g.5248003_5248009del GRCh37
NC_000011.8:g.5204579_5204585del NCBI36
NG_000007.3:g.70838_70844del
NG_059281.1:g.5294_5300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.114_120del ENSP00000494175.1:p.Trp38Ter
ENST00000335295.4:c.114_120del MANE Select ENSP00000333994.3:p.Trp38Ter
ENST00000380315.2:c.114_120del ENSP00000369671.2:p.Trp38Ter
ENST00000475226.1:n.46_52del
ENST00000485743.1:n.165_171del
ENST00000633227.1:c.98_104del ENSP00000488004.1:p.Gly33GlufsTer4
NM_000518.4:c.114_120del NP_000509.1:p.Trp38Ter
NM_000518.5:c.114_120del MANE Select NP_000509.1:p.Trp38Ter
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