Canonical Allele Identifier: CA125289
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15423
ClinVar RCV Id: RCV000016679 RCV000507506 RCV000781438 RCV001078331
dbSNP Id: rs34856846
gnomAD v2: 11-5248215-TA-T
gnomAD v4: 11-5226985-TA-T
MyVariant Identifiers: chr11:g.5248216del (hg19) chr11:g.5226986del (hg38)
PubMed: PMID:1769663 PMID:8619407
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226987del , CM000673.2:g.5226987del GRCh38
NC_000011.9:g.5248217del , CM000673.1:g.5248217del GRCh37
NC_000011.8:g.5204793del NCBI36
NG_000007.3:g.70630del
NG_059281.1:g.5086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.36del ENSP00000494175.1:p.Thr13LeufsTer7
ENST00000335295.4:c.36del MANE Select ENSP00000333994.3:p.Thr13LeufsTer7
ENST00000380315.2:c.36del ENSP00000369671.2:p.Thr13LeufsTer7
ENST00000485743.1:n.87del
ENST00000633227.1:c.36del ENSP00000488004.1:p.Thr13LeufsTer7
NM_000518.4:c.36del NP_000509.1:p.Thr13LeufsTer7
NM_000518.5:c.36del MANE Select NP_000509.1:p.Thr13LeufsTer7
Search 100 bp 5'
Search 100 bp 3'