Canonical Allele Identifier: CA341350
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15551
ClinVar RCV Id: RCV000016817
dbSNP Id: rs267607291
MyVariant Identifiers: chr11:g.5248005_5248006del (hg19) chr11:g.5226775_5226776del (hg38)
PubMed: PMID:8682512
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226775_5226776del , CM000673.2:g.5226775_5226776del GRCh38
NC_000011.9:g.5248005_5248006del , CM000673.1:g.5248005_5248006del GRCh37
NC_000011.8:g.5204581_5204582del NCBI36
NG_000007.3:g.70841_70842del
NG_059281.1:g.5297_5298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.117_118del ENSP00000494175.1:p.Gln40GlufsTer4
ENST00000335295.4:c.117_118del MANE Select ENSP00000333994.3:p.Gln40GlufsTer4
ENST00000380315.2:c.117_118del ENSP00000369671.2:p.Gln40GlufsTer4
ENST00000475226.1:n.49_50del
ENST00000485743.1:n.168_169del
ENST00000633227.1:c.101_102del ENSP00000488004.1:p.Pro34GlnfsTer?
NM_000518.4:c.117_118del NP_000509.1:p.Gln40GlufsTer4
NM_000518.5:c.117_118del MANE Select NP_000509.1:p.Gln40GlufsTer4
Search 100 bp 5'
Search 100 bp 3'