Canonical Allele Identifier: CA217113357

Gene: HBB

Linked Data

• dbSNP Id: rs35630218
• MyVariant Identifiers: chr11:g.5247758_5247759insC (hg19) ; chr11:g.5226528_5226529insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226530dup , CM000673.2:g.5226530dup	GRCh38
NC_000011.9:g.5247760dup , CM000673.1:g.5247760dup	GRCh37
NC_000011.8:g.5204336dup	NCBI36
NG_000007.3:g.71087dup
NG_059281.1:g.5543dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+48dup	ENSP00000494175.1:n.315+48dup
ENST00000335295.4:c.315+48dup MANE Select	ENSP00000333994.3:n.315+48dup
ENST00000475226.1:n.247+48dup
ENST00000485743.1:n.414dup
ENST00000633227.1:c.*131+48dup	ENSP00000488004.1:n.*131+48dup
NM_000518.4:c.315+48dup	NP_000509.1:n.315+48dup
NM_000518.5:c.315+48dup MANE Select	NP_000509.1:n.315+48dup