Canonical Allele Identifier: CA125282
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36308
ClinVar RCV Id: RCV000016672 RCV000029974 RCV000368084 RCV000479091 RCV001004357
dbSNP Id: rs35699606
ExAC: 11:5248224 A / AC
gnomAD v2: 11-5248224-A-AC
gnomAD v3: 11-5226994-A-AC
gnomAD v4: 11-5226994-A-AC
MyVariant Identifiers: chr11:g.5248225dupC (hg19) chr11:g.5248224_5248225insC (hg19) chr11:g.5226995dupC (hg38) chr11:g.5226994_5226995insC (hg38)
PubMed: PMID:6714226 PMID:8330981 PMID:9949622 PMID:16821247 PMID:20301599 PMID:20395516 PMID:21509314 PMID:22110956 PMID:22200002 PMID:22975760 PMID:23590658 PMID:24369358 PMID:25408857 PMID:27263053
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226995dup , CM000673.2:g.5226995dup GRCh38
NC_000011.9:g.5248225dup , CM000673.1:g.5248225dup GRCh37
NC_000011.8:g.5204801dup NCBI36
NG_000007.3:g.70621dup
NG_059281.1:g.5077dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.27dup ENSP00000494175.1:p.Ser10ValfsTer14
ENST00000335295.4:c.27dup MANE Select ENSP00000333994.3:p.Ser10ValfsTer14
ENST00000380315.2:c.27dup ENSP00000369671.2:p.Ser10ValfsTer14
ENST00000485743.1:n.78dup
ENST00000633227.1:c.27dup ENSP00000488004.1:p.Ser10ValfsTer14
NM_000518.4:c.27dup NP_000509.1:p.Ser10ValfsTer14
NM_000518.5:c.27dup MANE Select NP_000509.1:p.Ser10ValfsTer14
Search 100 bp 5'
Search 100 bp 3'