Canonical Allele Identifier: CA125370
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15506
ClinVar RCV Id: RCV000016768 RCV001078299
dbSNP Id: rs35949130
MyVariant Identifiers: chr11:g.5246714_5246718del (hg19) chr11:g.5225484_5225488del (hg38)
PubMed: PMID:1374896
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225486_5225490del , CM000673.2:g.5225486_5225490del GRCh38
NC_000011.9:g.5246716_5246720del , CM000673.1:g.5246716_5246720del GRCh37
NC_000011.8:g.5203292_5203296del NCBI36
NG_000007.3:g.72128_72132del
NG_059281.1:g.6584_6588del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*110_*114del ENSP00000494175.1:n.*110_*114del
ENST00000335295.4:c.*110_*114del MANE Select ENSP00000333994.3:n.*110_*114del
ENST00000633227.1:c.*370_*374del ENSP00000488004.1:n.*370_*374del
NM_000518.4:c.*110_*114del NP_000509.1:n.*110_*114del
NM_000518.5:c.*110_*114del MANE Select NP_000509.1:n.*110_*114del
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