Canonical Allele Identifier: CA125209

Gene: HBB

Linked Data

• ClinVar Variation Id: 15375
• ClinVar RCV Id: RCV000016627
• dbSNP Id: rs63751171
• MyVariant Identifiers: chr11:g.5247858_5247860del (hg19) ; chr11:g.5226628_5226630del (hg38)
• PubMed: PMID:4699574

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226628_5226630del , CM000673.2:g.5226628_5226630del	GRCh38
NC_000011.9:g.5247858_5247860del , CM000673.1:g.5247858_5247860del	GRCh37
NC_000011.8:g.5204434_5204436del	NCBI36
NG_000007.3:g.70986_70988del
NG_059281.1:g.5442_5444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.262_264del	ENSP00000494175.1:p.Thr88del
ENST00000335295.4:c.262_264del MANE Select	ENSP00000333994.3:p.Thr88del
ENST00000380315.2:c.262_264del	ENSP00000369671.2:p.Thr88del
ENST00000475226.1:n.194_196del
ENST00000485743.1:n.313_315del
ENST00000633227.1:c.*78_*80del	ENSP00000488004.1:n.*78_*80del
NM_000518.4:c.262_264del	NP_000509.1:p.Thr88del
NM_000518.5:c.262_264del MANE Select	NP_000509.1:p.Thr88del