Canonical Allele Identifier: CA125458
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15567
ClinVar RCV Id: RCV000016834 RCV000132763
dbSNP Id: rs34359964
MyVariant Identifiers: chr11:g.5246855_5246857del (hg19) chr11:g.5225625_5225627del (hg38)
PubMed: PMID:10335981
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225625_5225627del , CM000673.2:g.5225625_5225627del GRCh38
NC_000011.9:g.5246855_5246857del , CM000673.1:g.5246855_5246857del GRCh37
NC_000011.8:g.5203431_5203433del NCBI36
NG_000007.3:g.71989_71991del
NG_059281.1:g.6445_6447del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.415_417del ENSP00000494175.1:p.Ala139del
ENST00000335295.4:c.415_417del MANE Select ENSP00000333994.3:p.Ala139del
ENST00000633227.1:c.*231_*233del ENSP00000488004.1:n.*231_*233del
NM_000518.4:c.415_417del NP_000509.1:p.Ala139del
NM_000518.5:c.415_417del MANE Select NP_000509.1:p.Ala139del
Search 100 bp 5'
Search 100 bp 3'