Canonical Allele Identifier: CA915947982

Gene: HBB

Linked Data

• ClinVar Variation Id: 660167
• ClinVar RCV Id: RCV000817298
• dbSNP Id: rs1589891039

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225467_5225876del , CM000673.2:g.5225467_5225876del	GRCh38
NC_000011.9:g.5246697_5247106del , CM000673.1:g.5246697_5247106del	GRCh37
NC_000011.8:g.5203273_5203682del	NCBI36
NG_000007.3:g.71741_72150del
NG_059281.1:g.6197_6606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.316-149_*132del
ENST00000335295.4:c.316-149_*132del
NM_000518.4:c.316-149_*132del
NM_000518.5:c.316-149_*132del