Canonical Allele Identifier: CA125282

Gene: HBB

Linked Data

• ClinVar Variation Id: 36308
• ClinVar RCV Id: RCV000016672 ; RCV000029974 ; RCV000368084 ; RCV000479091 ; RCV001004357 ; RCV002496455 ; RCV003221786 ; RCV003989106
• 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

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