Canonical Allele Identifier: CA125284
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15417
ClinVar RCV Id: RCV001262999 RCV002426507 RCV002465488 RCV002496380 RCV003914848
dbSNP Id: rs80356821
ExAC: 11:5247992 CAAAG / C
gnomAD v2: 11-5247992-CAAAG-C
gnomAD v3: 11-5226762-CAAAG-C
gnomAD v4: 11-5226762-CAAAG-C
MyVariant Identifiers: chr11:g.5247993_5247996del (hg19) chr11:g.5226763_5226766del (hg38)
PubMed: PMID:6714226 PMID:6826539 PMID:8435318 PMID:9113933 PMID:9845707 PMID:12000828 PMID:12383672 PMID:15181845 PMID:20301599 PMID:24200214 PMID:25000193 PMID:25089872 PMID:25135424 PMID:25480500
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226765_5226768del , CM000673.2:g.5226765_5226768del GRCh38
NC_000011.9:g.5247995_5247998del , CM000673.1:g.5247995_5247998del GRCh37
NC_000011.8:g.5204571_5204574del NCBI36
NG_000007.3:g.70850_70853del
NG_059281.1:g.5306_5309del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.126_129del ENSP00000494175.1:p.Phe42LeufsTer19
ENST00000335295.4:c.126_129del MANE Select ENSP00000333994.3:p.Phe42LeufsTer19
ENST00000380315.2:c.126_129del ENSP00000369671.2:p.Phe42LeufsTer19
ENST00000475226.1:n.58_61del
ENST00000485743.1:n.177_180del
ENST00000633227.1:c.110_113del ENSP00000488004.1:p.Ser37Ter
NM_000518.4:c.126_129del NP_000509.1:p.Phe42LeufsTer19
NM_000518.5:c.126_129del MANE Select NP_000509.1:p.Phe42LeufsTer19
Search 100 bp 5'
Search 100 bp 3'