Canonical Allele Identifier: CA213887
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36306
ClinVar RCV Id: RCV002288523
dbSNP Id: rs193922555
gnomAD v4: 11-5226640-GC-G
MyVariant Identifiers: chr11:g.5247871del (hg19) chr11:g.5226641del (hg38)
PubMed: PMID:1517107 PMID:1740317 PMID:2525253 PMID:9140720 PMID:9401495 PMID:19437135 PMID:20437613 PMID:20975770 PMID:22356097 PMID:24052702 PMID:24052746 PMID:24719849 PMID:24828949 PMID:25016698 PMID:25825561
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226643del , CM000673.2:g.5226643del GRCh38
NC_000011.9:g.5247873del , CM000673.1:g.5247873del GRCh37
NC_000011.8:g.5204449del NCBI36
NG_000007.3:g.70975del
NG_059281.1:g.5431del

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.251del ENSP00000494175.1:p.Gly84AlafsTer6
ENST00000335295.4:c.251del MANE Select ENSP00000333994.3:p.Gly84AlafsTer6
ENST00000380315.2:c.251del ENSP00000369671.2:p.Gly84AlafsTer6
ENST00000475226.1:n.183del
ENST00000485743.1:n.302del
ENST00000633227.1:c.*67del ENSP00000488004.1:n.*67del
NM_000518.4:c.251del NP_000509.1:p.Gly84AlafsTer6
NM_000518.5:c.251del MANE Select NP_000509.1:p.Gly84AlafsTer6
Search 100 bp 5'
Search 100 bp 3'