Canonical Allele Identifier: CA2786690954

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126056_13126057insAAAAAAAAAA , CM000672.2:g.13126056_13126057insAAAAAAAAAA	GRCh38
NC_000010.10:g.13168056_13168057insAAAAAAAAAA , CM000672.1:g.13168056_13168057insAAAAAAAAAA	GRCh37
NC_000010.9:g.13208062_13208063insAAAAAAAAAA	NCBI36
NG_012876.1:g.30975_30976insAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+17_1242+18insAAAAAAAAAA MANE Select	ENSP00000368021.3:n.1242+17_1242+18insAAAAAAAAAA
ENST00000263036.9:c.1242+17_1242+18insAAAAAAAAAA	ENSP00000263036.3:n.1242+17_1242+18insAAAAAAAAAA
ENST00000378747.7:c.1242+17_1242+18insAAAAAAAAAA	ENSP00000368021.3:n.1242+17_1242+18insAAAAAAAAAA
ENST00000378748.7:c.1242+17_1242+18insAAAAAAAAAA	ENSP00000368022.3:n.1242+17_1242+18insAAAAAAAAAA
ENST00000378752.7:c.1224+17_1224+18insAAAAAAAAAA	ENSP00000368027.3:n.1224+17_1224+18insAAAAAAAAAA
ENST00000378757.6:c.1242+17_1242+18insAAAAAAAAAA	ENSP00000368032.2:n.1242+17_1242+18insAAAAAAAAAA
ENST00000378764.6:c.1224+17_1224+18insAAAAAAAAAA	ENSP00000368040.1:n.1224+17_1224+18insAAAAAAAAAA
NM_001008211.1:c.1242+17_1242+18insAAAAAAAAAA	NP_001008212.1:n.1242+17_1242+18insAAAAAAAAAA
NM_001008212.1:c.1242+17_1242+18insAAAAAAAAAA	NP_001008213.1:n.1242+17_1242+18insAAAAAAAAAA
NM_001008213.1:c.1242+17_1242+18insAAAAAAAAAA	NP_001008214.1:n.1242+17_1242+18insAAAAAAAAAA
NM_021980.4:c.1242+17_1242+18insAAAAAAAAAA	NP_068815.2:n.1242+17_1242+18insAAAAAAAAAA
XM_005252336.2:c.1224+17_1224+18insAAAAAAAAAA	XP_005252393.2:n.1224+17_1224+18insAAAAAAAAAA
XM_005252337.3:c.1224+17_1224+18insAAAAAAAAAA	XP_005252394.2:n.1224+17_1224+18insAAAAAAAAAA
XM_005252338.2:c.1071+17_1071+18insAAAAAAAAAA	XP_005252395.2:n.1071+17_1071+18insAAAAAAAAAA
NM_001008212.2:c.1242+17_1242+18insAAAAAAAAAA MANE Select	NP_001008213.1:n.1242+17_1242+18insAAAAAAAAAA