Canonical Allele Identifier: CA217115087

Gene: HBB

Linked Data

• ClinVar Variation Id: 869241
• ClinVar RCV Id: RCV001078276
• dbSNP Id: rs267607295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226935del , CM000673.2:g.5226935del	GRCh38
NC_000011.9:g.5248165del , CM000673.1:g.5248165del	GRCh37
NC_000011.8:g.5204741del	NCBI36
NG_000007.3:g.70683del
NG_059281.1:g.5139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.89del	ENSP00000494175.1:p.Gly30AlafsTer?
ENST00000335295.4:c.89del MANE Select	ENSP00000333994.3:p.Gly30AlafsTer?
ENST00000380315.2:c.89del	ENSP00000369671.2:p.Gly30AlafsTer?
ENST00000485743.1:n.140del
ENST00000633227.1:c.76+13del	ENSP00000488004.1:n.76+13del
NM_000518.4:c.89del	NP_000509.1:p.Gly30AlafsTer?
NM_000518.5:c.89del MANE Select	NP_000509.1:p.Gly30AlafsTer?