Canonical Allele Identifier: CA217112045

Gene: HBB

Linked Data

• ClinVar Variation Id: 869259
• ClinVar RCV Id: RCV001078300
• dbSNP Id: rs281864532

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225486_5225487del , CM000673.2:g.5225486_5225487del	GRCh38
NC_000011.9:g.5246716_5246717del , CM000673.1:g.5246716_5246717del	GRCh37
NC_000011.8:g.5203292_5203293del	NCBI36
NG_000007.3:g.72133_72134del
NG_059281.1:g.6589_6590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*115_*116del	ENSP00000494175.1:n.*115_*116del
ENST00000335295.4:c.*115_*116del MANE Select	ENSP00000333994.3:n.*115_*116del
ENST00000633227.1:c.*375_*376del	ENSP00000488004.1:n.*375_*376del
NM_000518.4:c.*115_*116del	NP_000509.1:n.*115_*116del
NM_000518.5:c.*115_*116del MANE Select	NP_000509.1:n.*115_*116del