Canonical Allele Identifier: CA2697548394

Gene: HBB

Linked Data

• ClinVar Variation Id: 2696164
• ClinVar RCV Id: RCV003542851

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226466_5226467insTAGAAT , CM000673.2:g.5226466_5226467insTAGAAT	GRCh38
NC_000011.9:g.5247696_5247697insTAGAAT , CM000673.1:g.5247696_5247697insTAGAAT	GRCh37
NC_000011.8:g.5204272_5204273insTAGAAT	NCBI36
NG_000007.3:g.71150_71151insTTCTAA
NG_059281.1:g.5606_5607insTTCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+111_315+112insTTCTAA	ENSP00000494175.1:n.315+111_315+112insTTCTAA
ENST00000335295.4:c.315+111_315+112insTTCTAA MANE Select	ENSP00000333994.3:n.315+111_315+112insTTCTAA
ENST00000475226.1:n.247+111_247+112insTTCTAA
ENST00000485743.1:n.477_478insTTCTAA
ENST00000633227.1:c.*131+111_*131+112insTTCTAA	ENSP00000488004.1:n.*131+111_*131+112insTTCTAA
NM_000518.4:c.315+111_315+112insTTCTAA	NP_000509.1:n.315+111_315+112insTTCTAA
NM_000518.5:c.315+111_315+112insTTCTAA MANE Select	NP_000509.1:n.315+111_315+112insTTCTAA