Canonical Allele Identifier: CA217113371

Gene: HBB

Linked Data

• dbSNP Id: rs281864521
• MyVariant Identifiers: chr11:g.5247794_5247805del (hg19) ; chr11:g.5226564_5226575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226567_5226578del , CM000673.2:g.5226567_5226578del	GRCh38
NC_000011.9:g.5247797_5247808del , CM000673.1:g.5247797_5247808del	GRCh37
NC_000011.8:g.5204373_5204384del	NCBI36
NG_000007.3:g.71041_71052del
NG_059281.1:g.5497_5508del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+2_315+13del
ENST00000335295.4:c.315+2_315+13del
ENST00000475226.1:n.247+2_247+13del
ENST00000485743.1:n.368_379del
ENST00000633227.1:c.*131+2_*131+13del
NM_000518.4:c.315+2_315+13del
NM_000518.5:c.315+2_315+13del