Canonical Allele Identifier: CA217112550

Gene: HBB

Linked Data

• dbSNP Id: rs35323748
• MyVariant Identifiers: chr11:g.5246897del (hg19) ; chr11:g.5225667del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225667del , CM000673.2:g.5225667del	GRCh38
NC_000011.9:g.5246897del , CM000673.1:g.5246897del	GRCh37
NC_000011.8:g.5203473del	NCBI36
NG_000007.3:g.71949del
NG_059281.1:g.6405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.375del	ENSP00000494175.1:p.Pro126GlnfsTer?
ENST00000335295.4:c.375del MANE Select	ENSP00000333994.3:p.Pro126GlnfsTer?
ENST00000475226.1:n.307del
ENST00000633227.1:c.*191del	ENSP00000488004.1:n.*191del
NM_000518.4:c.375del	NP_000509.1:p.Pro126GlnfsTer?
NM_000518.5:c.375del MANE Select	NP_000509.1:p.Pro126GlnfsTer?