Canonical Allele Identifier: CA1891471261

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126207_13126209delinsCAT , CM000672.2:g.13126207_13126209delinsCAT	GRCh38
NC_000010.10:g.13168207_13168209delinsCAT , CM000672.1:g.13168207_13168209delinsCAT	GRCh37
NC_000010.9:g.13208213_13208215delinsCAT	NCBI36
NG_012876.1:g.31126_31128delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+168_1242+170delinsCAT MANE Select	ENSP00000368021.3:n.1242+168_1242+170delinsCAT
ENST00000263036.9:c.1242+168_1242+170delinsCAT	ENSP00000263036.3:n.1242+168_1242+170delinsCAT
ENST00000378747.7:c.1242+168_1242+170delinsCAT	ENSP00000368021.3:n.1242+168_1242+170delinsCAT
ENST00000378748.7:c.1242+168_1242+170delinsCAT	ENSP00000368022.3:n.1242+168_1242+170delinsCAT
ENST00000378752.7:c.1224+168_1224+170delinsCAT	ENSP00000368027.3:n.1224+168_1224+170delinsCAT
ENST00000378757.6:c.1242+168_1242+170delinsCAT	ENSP00000368032.2:n.1242+168_1242+170delinsCAT
ENST00000378764.6:c.1224+168_1224+170delinsCAT	ENSP00000368040.1:n.1224+168_1224+170delinsCAT
NM_001008211.1:c.1242+168_1242+170delinsCAT	NP_001008212.1:n.1242+168_1242+170delinsCAT
NM_001008212.1:c.1242+168_1242+170delinsCAT	NP_001008213.1:n.1242+168_1242+170delinsCAT
NM_001008213.1:c.1242+168_1242+170delinsCAT	NP_001008214.1:n.1242+168_1242+170delinsCAT
NM_021980.4:c.1242+168_1242+170delinsCAT	NP_068815.2:n.1242+168_1242+170delinsCAT
XM_005252336.2:c.1224+168_1224+170delinsCAT	XP_005252393.2:n.1224+168_1224+170delinsCAT
XM_005252337.3:c.1224+168_1224+170delinsCAT	XP_005252394.2:n.1224+168_1224+170delinsCAT
XM_005252338.2:c.1071+168_1071+170delinsCAT	XP_005252395.2:n.1071+168_1071+170delinsCAT
NM_001008212.2:c.1242+168_1242+170delinsCAT MANE Select	NP_001008213.1:n.1242+168_1242+170delinsCAT