Canonical Allele Identifier: CA125297
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15431
ClinVar RCV Id: RCV000016688 RCV000508367 RCV000781455 RCV001004345 RCV001078307
dbSNP Id: rs63750532
gnomAD v4: 11-5226779-CA-C
MyVariant Identifiers: chr11:g.5248010del (hg19) chr11:g.5226780del (hg38)
PubMed: PMID:1986379 PMID:2197725 PMID:28391758
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226781del , CM000673.2:g.5226781del GRCh38
NC_000011.9:g.5248011del , CM000673.1:g.5248011del GRCh37
NC_000011.8:g.5204587del NCBI36
NG_000007.3:g.70836del
NG_059281.1:g.5292del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.112del ENSP00000494175.1:p.Trp38GlyfsTer24
ENST00000335295.4:c.112del MANE Select ENSP00000333994.3:p.Trp38GlyfsTer24
ENST00000380315.2:c.112del ENSP00000369671.2:p.Trp38GlyfsTer24
ENST00000475226.1:n.44del
ENST00000485743.1:n.163del
ENST00000633227.1:c.96del ENSP00000488004.1:p.Gly33AspfsTer6
NM_000518.4:c.112del NP_000509.1:p.Trp38GlyfsTer24
NM_000518.5:c.112del MANE Select NP_000509.1:p.Trp38GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'