Canonical Allele Identifier: CA125297

Gene: HBB

Linked Data

• ClinVar Variation Id: 15431
• ClinVar RCV Id: RCV000016688 ; RCV000508367 ; RCV000781455 ; RCV001004345 ; RCV001078307 ; RCV002504797
• dbSNP Id: rs63750532
• gnomAD v4: 11-5226779-CA-C
• MyVariant Identifiers: chr11:g.5248010del (hg19) ; chr11:g.5226780del (hg38)
• PubMed: PMID:1986379 ; PMID:2197725 ; PMID:28391758

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226781del , CM000673.2:g.5226781del	GRCh38
NC_000011.9:g.5248011del , CM000673.1:g.5248011del	GRCh37
NC_000011.8:g.5204587del	NCBI36
NG_000007.3:g.70836del
NG_059281.1:g.5292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.112del	ENSP00000494175.1:p.Trp38GlyfsTer24
ENST00000335295.4:c.112del MANE Select	ENSP00000333994.3:p.Trp38GlyfsTer24
ENST00000380315.2:c.112del	ENSP00000369671.2:p.Trp38GlyfsTer24
ENST00000475226.1:n.44del
ENST00000485743.1:n.163del
ENST00000633227.1:c.96del	ENSP00000488004.1:p.Gly33AspfsTer6
NM_000518.4:c.112del	NP_000509.1:p.Trp38GlyfsTer24
NM_000518.5:c.112del MANE Select	NP_000509.1:p.Trp38GlyfsTer24