Canonical Allele Identifier: CA2759937856

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643166_193643167insAC , CM000665.2:g.193643166_193643167insAC	GRCh38
NC_000003.11:g.193360955_193360956insAC , CM000665.1:g.193360955_193360956insAC	GRCh37
NC_000003.10:g.194843649_194843650insAC	NCBI36
NG_011605.1:g.55023_55024insAC , LRG_337:g.55023_55024insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1305+117_1305+118insAC MANE Select	ENSP00000355324.2:n.1305+117_1305+118insAC
ENST00000361828.7:c.1140+117_1140+118insAC	ENSP00000354429.3:n.1140+117_1140+118insAC
ENST00000361908.8:c.1251+117_1251+118insAC	ENSP00000354681.3:n.1251+117_1251+118insAC
ENST00000392436.7:c.1140+117_1140+118insAC	ENSP00000376231.3:n.1140+117_1140+118insAC
ENST00000392437.6:c.1194+117_1194+118insAC	ENSP00000376232.2:n.1194+117_1194+118insAC
ENST00000642289.1:c.1080-207_1080-206insAC
ENST00000642445.1:c.1140+117_1140+118insAC	ENSP00000495535.1:n.1140+117_1140+118insAC
ENST00000642593.1:c.1140+117_1140+118insAC	ENSP00000494273.1:n.1140+117_1140+118insAC
ENST00000643329.1:c.822+117_822+118insAC	ENSP00000493673.1:n.822+117_822+118insAC
ENST00000643737.1:c.*1221+117_*1221+118insAC	ENSP00000494210.1:n.*1221+117_*1221+118insAC
ENST00000644595.1:c.1140+117_1140+118insAC	ENSP00000494121.1:n.1140+117_1140+118insAC
ENST00000644629.1:c.800+117_800+118insAC
ENST00000644841.1:c.768+117_768+118insAC	ENSP00000493988.1:n.768+117_768+118insAC
ENST00000644959.1:c.1109+117_1109+118insAC
ENST00000645553.1:c.1155+117_1155+118insAC	ENSP00000494725.1:n.1155+117_1155+118insAC
ENST00000646085.1:c.*618+117_*618+118insAC	ENSP00000494509.1:n.*618+117_*618+118insAC
ENST00000646277.1:c.1305+117_1305+118insAC	ENSP00000495289.1:n.1305+117_1305+118insAC
ENST00000646544.1:c.129-207_129-206insAC
ENST00000646699.1:c.1080-207_1080-206insAC
ENST00000646793.1:c.1032+117_1032+118insAC	ENSP00000494512.1:n.1032+117_1032+118insAC
ENST00000361150.6:c.1143+117_1143+118insAC	ENSP00000354781.2:n.1143+117_1143+118insAC
ENST00000361510.6:c.1305+117_1305+118insAC	ENSP00000355324.2:n.1305+117_1305+118insAC
ENST00000361715.6:c.1197+117_1197+118insAC	ENSP00000355311.2:n.1197+117_1197+118insAC
ENST00000361828.6:c.1194+117_1194+118insAC	ENSP00000354429.2:n.1194+117_1194+118insAC
ENST00000361908.7:c.1251+117_1251+118insAC	ENSP00000354681.3:n.1251+117_1251+118insAC
ENST00000392438.7:c.1140+117_1140+118insAC	ENSP00000376233.3:n.1140+117_1140+118insAC
ENST00000475899.1:n.336+117_336+118insAC
NM_015560.2:c.1140+117_1140+118insAC , LRG_337t1:c.1140+117_1140+118insAC	NP_056375.2:n.1140+117_1140+118insAC
NM_130831.2:c.1032+117_1032+118insAC	NP_570844.1:n.1032+117_1032+118insAC
NM_130832.2:c.1086+117_1086+118insAC	NP_570845.1:n.1086+117_1086+118insAC
NM_130833.2:c.1143+117_1143+118insAC	NP_570846.1:n.1143+117_1143+118insAC
NM_130834.2:c.1194+117_1194+118insAC	NP_570847.2:n.1194+117_1194+118insAC
NM_130835.2:c.1197+117_1197+118insAC	NP_570848.1:n.1197+117_1197+118insAC
NM_130836.2:c.1251+117_1251+118insAC	NP_570849.2:n.1251+117_1251+118insAC
NM_130837.2:c.1305+117_1305+118insAC , LRG_337t2:c.1305+117_1305+118insAC	NP_570850.2:n.1305+117_1305+118insAC
XM_011512863.1:c.1305+117_1305+118insAC	XP_011511165.1:n.1305+117_1305+118insAC
XM_011512864.1:c.1251+117_1251+118insAC	XP_011511166.1:n.1251+117_1251+118insAC
XM_011512865.1:c.1194+117_1194+118insAC	XP_011511167.1:n.1194+117_1194+118insAC
XM_011512866.1:c.1143+117_1143+118insAC	XP_011511168.1:n.1143+117_1143+118insAC
XM_011512867.1:c.1140+117_1140+118insAC	XP_011511169.1:n.1140+117_1140+118insAC
XM_011512868.1:c.1032+117_1032+118insAC	XP_011511170.1:n.1032+117_1032+118insAC
XM_011512869.1:c.1305+117_1305+118insAC	XP_011511171.1:n.1305+117_1305+118insAC
NM_001354663.1:c.771+117_771+118insAC	NP_001341592.1:n.771+117_771+118insAC
NM_001354664.1:c.768+117_768+118insAC	NP_001341593.1:n.768+117_768+118insAC
XR_001740158.2:n.1534+117_1534+118insAC
XR_001740159.2:n.1369+117_1369+118insAC
NM_001354663.2:c.771+117_771+118insAC	NP_001341592.1:n.771+117_771+118insAC
NM_001354664.2:c.768+117_768+118insAC	NP_001341593.1:n.768+117_768+118insAC
NM_130831.3:c.1032+117_1032+118insAC	NP_570844.1:n.1032+117_1032+118insAC
NM_130832.3:c.1086+117_1086+118insAC	NP_570845.1:n.1086+117_1086+118insAC
NM_130834.3:c.1194+117_1194+118insAC	NP_570847.2:n.1194+117_1194+118insAC
NM_130836.3:c.1251+117_1251+118insAC	NP_570849.2:n.1251+117_1251+118insAC
NM_015560.3:c.1140+117_1140+118insAC	NP_056375.2:n.1140+117_1140+118insAC
NM_130833.3:c.1143+117_1143+118insAC	NP_570846.1:n.1143+117_1143+118insAC
NM_130835.3:c.1197+117_1197+118insAC	NP_570848.1:n.1197+117_1197+118insAC
NM_130837.3:c.1305+117_1305+118insAC MANE Select	NP_570850.2:n.1305+117_1305+118insAC