Canonical Allele Identifier: CA125279
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15413
ClinVar RCV Id: RCV000016669 RCV000029972 RCV000506563 RCV001004358 RCV002288500
dbSNP Id: rs35497102
ExAC: 11:5248225 CTT / C
gnomAD v2: 11-5248225-CTT-C
gnomAD v3: 11-5226995-CTT-C
gnomAD v4: 11-5226995-CTT-C
MyVariant Identifiers: chr11:g.5248226_5248227del (hg19) chr11:g.5226996_5226997del (hg38)
PubMed: PMID:2200760 PMID:2430648 PMID:3828533 PMID:6280057 PMID:6985481 PMID:7795641 PMID:20301599 PMID:22110956 PMID:22851993 PMID:23321370 PMID:25155404
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226996_5226997del , CM000673.2:g.5226996_5226997del GRCh38
NC_000011.9:g.5248226_5248227del , CM000673.1:g.5248226_5248227del GRCh37
NC_000011.8:g.5204802_5204803del NCBI36
NG_000007.3:g.70619_70620del
NG_059281.1:g.5075_5076del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.25_26del ENSP00000494175.1:p.Lys9ValfsTer14
ENST00000335295.4:c.25_26del MANE Select ENSP00000333994.3:p.Lys9ValfsTer14
ENST00000380315.2:c.25_26del ENSP00000369671.2:p.Lys9ValfsTer14
ENST00000485743.1:n.76_77del
ENST00000633227.1:c.25_26del ENSP00000488004.1:p.Lys9ValfsTer14
NM_000518.4:c.25_26del NP_000509.1:p.Lys9ValfsTer14
NM_000518.5:c.25_26del MANE Select NP_000509.1:p.Lys9ValfsTer14
Search 100 bp 5'
Search 100 bp 3'