Canonical Allele Identifier: CA2759937881

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643189_193643191del , CM000665.2:g.193643189_193643191del	GRCh38
NC_000003.11:g.193360978_193360980del , CM000665.1:g.193360978_193360980del	GRCh37
NC_000003.10:g.194843672_194843674del	NCBI36
NG_011605.1:g.55046_55048del , LRG_337:g.55046_55048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1305+140_1305+142del MANE Select	ENSP00000355324.2:n.1305+140_1305+142del
ENST00000361828.7:c.1140+140_1140+142del	ENSP00000354429.3:n.1140+140_1140+142del
ENST00000361908.8:c.1251+140_1251+142del	ENSP00000354681.3:n.1251+140_1251+142del
ENST00000392436.7:c.1140+140_1140+142del	ENSP00000376231.3:n.1140+140_1140+142del
ENST00000392437.6:c.1194+140_1194+142del	ENSP00000376232.2:n.1194+140_1194+142del
ENST00000642289.1:c.1080-184_1080-182del
ENST00000642445.1:c.1140+140_1140+142del	ENSP00000495535.1:n.1140+140_1140+142del
ENST00000642593.1:c.1140+140_1140+142del	ENSP00000494273.1:n.1140+140_1140+142del
ENST00000643329.1:c.822+140_822+142del	ENSP00000493673.1:n.822+140_822+142del
ENST00000643737.1:c.*1221+140_*1221+142del	ENSP00000494210.1:n.*1221+140_*1221+142del
ENST00000644595.1:c.1140+140_1140+142del	ENSP00000494121.1:n.1140+140_1140+142del
ENST00000644629.1:c.800+140_800+142del
ENST00000644841.1:c.768+140_768+142del	ENSP00000493988.1:n.768+140_768+142del
ENST00000644959.1:c.1109+140_1109+142del
ENST00000645553.1:c.1155+140_1155+142del	ENSP00000494725.1:n.1155+140_1155+142del
ENST00000646085.1:c.*618+140_*618+142del	ENSP00000494509.1:n.*618+140_*618+142del
ENST00000646277.1:c.1305+140_1305+142del	ENSP00000495289.1:n.1305+140_1305+142del
ENST00000646544.1:c.129-184_129-182del
ENST00000646699.1:c.1080-184_1080-182del
ENST00000646793.1:c.1032+140_1032+142del	ENSP00000494512.1:n.1032+140_1032+142del
ENST00000361150.6:c.1143+140_1143+142del	ENSP00000354781.2:n.1143+140_1143+142del
ENST00000361510.6:c.1305+140_1305+142del	ENSP00000355324.2:n.1305+140_1305+142del
ENST00000361715.6:c.1197+140_1197+142del	ENSP00000355311.2:n.1197+140_1197+142del
ENST00000361828.6:c.1194+140_1194+142del	ENSP00000354429.2:n.1194+140_1194+142del
ENST00000361908.7:c.1251+140_1251+142del	ENSP00000354681.3:n.1251+140_1251+142del
ENST00000392438.7:c.1140+140_1140+142del	ENSP00000376233.3:n.1140+140_1140+142del
ENST00000475899.1:n.336+140_336+142del
NM_015560.2:c.1140+140_1140+142del , LRG_337t1:c.1140+140_1140+142del	NP_056375.2:n.1140+140_1140+142del
NM_130831.2:c.1032+140_1032+142del	NP_570844.1:n.1032+140_1032+142del
NM_130832.2:c.1086+140_1086+142del	NP_570845.1:n.1086+140_1086+142del
NM_130833.2:c.1143+140_1143+142del	NP_570846.1:n.1143+140_1143+142del
NM_130834.2:c.1194+140_1194+142del	NP_570847.2:n.1194+140_1194+142del
NM_130835.2:c.1197+140_1197+142del	NP_570848.1:n.1197+140_1197+142del
NM_130836.2:c.1251+140_1251+142del	NP_570849.2:n.1251+140_1251+142del
NM_130837.2:c.1305+140_1305+142del , LRG_337t2:c.1305+140_1305+142del	NP_570850.2:n.1305+140_1305+142del
XM_011512863.1:c.1305+140_1305+142del	XP_011511165.1:n.1305+140_1305+142del
XM_011512864.1:c.1251+140_1251+142del	XP_011511166.1:n.1251+140_1251+142del
XM_011512865.1:c.1194+140_1194+142del	XP_011511167.1:n.1194+140_1194+142del
XM_011512866.1:c.1143+140_1143+142del	XP_011511168.1:n.1143+140_1143+142del
XM_011512867.1:c.1140+140_1140+142del	XP_011511169.1:n.1140+140_1140+142del
XM_011512868.1:c.1032+140_1032+142del	XP_011511170.1:n.1032+140_1032+142del
XM_011512869.1:c.1305+140_1305+142del	XP_011511171.1:n.1305+140_1305+142del
NM_001354663.1:c.771+140_771+142del	NP_001341592.1:n.771+140_771+142del
NM_001354664.1:c.768+140_768+142del	NP_001341593.1:n.768+140_768+142del
XR_001740158.2:n.1534+140_1534+142del
XR_001740159.2:n.1369+140_1369+142del
NM_001354663.2:c.771+140_771+142del	NP_001341592.1:n.771+140_771+142del
NM_001354664.2:c.768+140_768+142del	NP_001341593.1:n.768+140_768+142del
NM_130831.3:c.1032+140_1032+142del	NP_570844.1:n.1032+140_1032+142del
NM_130832.3:c.1086+140_1086+142del	NP_570845.1:n.1086+140_1086+142del
NM_130834.3:c.1194+140_1194+142del	NP_570847.2:n.1194+140_1194+142del
NM_130836.3:c.1251+140_1251+142del	NP_570849.2:n.1251+140_1251+142del
NM_015560.3:c.1140+140_1140+142del	NP_056375.2:n.1140+140_1140+142del
NM_130833.3:c.1143+140_1143+142del	NP_570846.1:n.1143+140_1143+142del
NM_130835.3:c.1197+140_1197+142del	NP_570848.1:n.1197+140_1197+142del
NM_130837.3:c.1305+140_1305+142del MANE Select	NP_570850.2:n.1305+140_1305+142del