Canonical Allele Identifier: CA2580081337

Gene: OPTN

Linked Data

• ClinVar Variation Id: 7100
• ClinVar RCV Id: RCV000007518

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13109637_13111508del , CM000672.2:g.13109637_13111508del	GRCh38
NC_000010.10:g.13151637_13153508del , CM000672.1:g.13151637_13153508del	GRCh37
NC_000010.9:g.13191643_13193514del	NCBI36
NG_012876.1:g.14556_16427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.166+349_370-945del
ENST00000263036.9:c.166+349_370-945del
ENST00000378747.7:c.166+349_370-945del
ENST00000378748.7:c.166+349_370-945del
ENST00000378752.7:c.166+349_370-945del
ENST00000378757.6:c.166+349_370-945del
ENST00000378764.6:c.166+349_370-945del
ENST00000430081.5:c.166+349_*275-945del
ENST00000482140.5:c.166+349_167-945del	ENSP00000484961.1:n.166+349_167-945del
NM_001008211.1:c.166+349_370-945del
NM_001008212.1:c.166+349_370-945del
NM_001008213.1:c.166+349_370-945del
NM_021980.4:c.166+349_370-945del
XM_005252336.2:c.166+349_370-945del
XM_005252337.3:c.166+349_370-945del
XM_005252338.2:c.-100+349_199-945del
NM_001008212.2:c.166+349_370-945del