Canonical Allele Identifier: CA916083232

Gene: HBB

Linked Data

• ClinVar Variation Id: 869291
• ClinVar RCV Id: RCV001078346
• dbSNP Id: rs1847592245

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227131_5227256del , CM000673.2:g.5227131_5227256del	GRCh38
NC_000011.9:g.5248361_5248486del , CM000673.1:g.5248361_5248486del	GRCh37
NC_000011.8:g.5204937_5205062del	NCBI36
NG_000007.3:g.70360_70485del
NG_059281.1:g.4816_4941del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380315.2:c.-18-217_-18-92del	ENSP00000369671.2:n.-18-217_-18-92del