Canonical Allele Identifier: CA125275
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15410
ClinVar RCV Id: RCV000016665
dbSNP Id: rs34502690
MyVariant Identifiers: chr11:g.5246887_5246889del (hg19) chr11:g.5225657_5225659del (hg38)
PubMed: PMID:2634667
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225657_5225659del , CM000673.2:g.5225657_5225659del GRCh38
NC_000011.9:g.5246887_5246889del , CM000673.1:g.5246887_5246889del GRCh37
NC_000011.8:g.5203463_5203465del NCBI36
NG_000007.3:g.71957_71959del
NG_059281.1:g.6413_6415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.383_385del ENSP00000494175.1:p.Gln128_Ala129delinsPro
ENST00000335295.4:c.383_385del MANE Select ENSP00000333994.3:p.Gln128_Ala129delinsPro
ENST00000475226.1:n.315_317del
ENST00000633227.1:c.*199_*201del ENSP00000488004.1:n.*199_*201del
NM_000518.4:c.383_385del NP_000509.1:p.Gln128_Ala129delinsPro
NM_000518.5:c.383_385del MANE Select NP_000509.1:p.Gln128_Ala129delinsPro
Search 100 bp 5'
Search 100 bp 3'