Canonical Allele Identifier: CA1891470991

Gene: OPTN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13126049_13126050delinsGA , CM000672.2:g.13126049_13126050delinsGA	GRCh38
NC_000010.10:g.13168049_13168050delinsGA , CM000672.1:g.13168049_13168050delinsGA	GRCh37
NC_000010.9:g.13208055_13208056delinsGA	NCBI36
NG_012876.1:g.30968_30969delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378747.8:c.1242+10_1242+11delinsGA MANE Select	ENSP00000368021.3:n.1242+10_1242+11delinsGA
ENST00000263036.9:c.1242+10_1242+11delinsGA	ENSP00000263036.3:n.1242+10_1242+11delinsGA
ENST00000378747.7:c.1242+10_1242+11delinsGA	ENSP00000368021.3:n.1242+10_1242+11delinsGA
ENST00000378748.7:c.1242+10_1242+11delinsGA	ENSP00000368022.3:n.1242+10_1242+11delinsGA
ENST00000378752.7:c.1224+10_1224+11delinsGA	ENSP00000368027.3:n.1224+10_1224+11delinsGA
ENST00000378757.6:c.1242+10_1242+11delinsGA	ENSP00000368032.2:n.1242+10_1242+11delinsGA
ENST00000378764.6:c.1224+10_1224+11delinsGA	ENSP00000368040.1:n.1224+10_1224+11delinsGA
NM_001008211.1:c.1242+10_1242+11delinsGA	NP_001008212.1:n.1242+10_1242+11delinsGA
NM_001008212.1:c.1242+10_1242+11delinsGA	NP_001008213.1:n.1242+10_1242+11delinsGA
NM_001008213.1:c.1242+10_1242+11delinsGA	NP_001008214.1:n.1242+10_1242+11delinsGA
NM_021980.4:c.1242+10_1242+11delinsGA	NP_068815.2:n.1242+10_1242+11delinsGA
XM_005252336.2:c.1224+10_1224+11delinsGA	XP_005252393.2:n.1224+10_1224+11delinsGA
XM_005252337.3:c.1224+10_1224+11delinsGA	XP_005252394.2:n.1224+10_1224+11delinsGA
XM_005252338.2:c.1071+10_1071+11delinsGA	XP_005252395.2:n.1071+10_1071+11delinsGA
NM_001008212.2:c.1242+10_1242+11delinsGA MANE Select	NP_001008213.1:n.1242+10_1242+11delinsGA