Canonical Allele Identifier: CA1430243361
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193642671_193642672delinsCA , CM000665.2:g.193642671_193642672delinsCA GRCh38
NC_000003.11:g.193360460_193360461delinsCA , CM000665.1:g.193360460_193360461delinsCA GRCh37
NC_000003.10:g.194843154_194843155delinsCA NCBI36
NG_011605.1:g.54528_54529delinsCA , LRG_337:g.54528_54529delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1150-94_1150-93delinsCA MANE Select ENSP00000355324.2:n.1150-94_1150-93delinsCA
ENST00000361828.7:c.985-94_985-93delinsCA ENSP00000354429.3:n.985-94_985-93delinsCA
ENST00000361908.8:c.1096-94_1096-93delinsCA ENSP00000354681.3:n.1096-94_1096-93delinsCA
ENST00000392436.7:c.985-94_985-93delinsCA ENSP00000376231.3:n.985-94_985-93delinsCA
ENST00000392437.6:c.1039-94_1039-93delinsCA ENSP00000376232.2:n.1039-94_1039-93delinsCA
ENST00000642289.1:c.1080-702_1080-701delinsCA
ENST00000642445.1:c.985-94_985-93delinsCA ENSP00000495535.1:n.985-94_985-93delinsCA
ENST00000642593.1:c.985-94_985-93delinsCA ENSP00000494273.1:n.985-94_985-93delinsCA
ENST00000643329.1:c.667-94_667-93delinsCA ENSP00000493673.1:n.667-94_667-93delinsCA
ENST00000643737.1:c.*1066-94_*1066-93delinsCA ENSP00000494210.1:n.*1066-94_*1066-93delinsCA
ENST00000644595.1:c.985-94_985-93delinsCA ENSP00000494121.1:n.985-94_985-93delinsCA
ENST00000644629.1:c.645-94_645-93delinsCA
ENST00000644841.1:c.613-94_613-93delinsCA ENSP00000493988.1:n.613-94_613-93delinsCA
ENST00000644959.1:c.954-94_954-93delinsCA
ENST00000645553.1:c.1000-94_1000-93delinsCA ENSP00000494725.1:n.1000-94_1000-93delinsCA
ENST00000646085.1:c.*463-94_*463-93delinsCA ENSP00000494509.1:n.*463-94_*463-93delinsCA
ENST00000646277.1:c.1150-94_1150-93delinsCA ENSP00000495289.1:n.1150-94_1150-93delinsCA
ENST00000646544.1:c.48-94_48-93delinsCA
ENST00000646699.1:c.1080-702_1080-701delinsCA
ENST00000646793.1:c.877-94_877-93delinsCA ENSP00000494512.1:n.877-94_877-93delinsCA
ENST00000361150.6:c.988-94_988-93delinsCA ENSP00000354781.2:n.988-94_988-93delinsCA
ENST00000361510.6:c.1150-94_1150-93delinsCA ENSP00000355324.2:n.1150-94_1150-93delinsCA
ENST00000361715.6:c.1042-94_1042-93delinsCA ENSP00000355311.2:n.1042-94_1042-93delinsCA
ENST00000361828.6:c.1039-94_1039-93delinsCA ENSP00000354429.2:n.1039-94_1039-93delinsCA
ENST00000361908.7:c.1096-94_1096-93delinsCA ENSP00000354681.3:n.1096-94_1096-93delinsCA
ENST00000392438.7:c.985-94_985-93delinsCA ENSP00000376233.3:n.985-94_985-93delinsCA
ENST00000475899.1:n.181-94_181-93delinsCA
ENST00000497189.5:n.471-94_471-93delinsCA
NM_015560.2:c.985-94_985-93delinsCA , LRG_337t1:c.985-94_985-93delinsCA NP_056375.2:n.985-94_985-93delinsCA
NM_130831.2:c.877-94_877-93delinsCA NP_570844.1:n.877-94_877-93delinsCA
NM_130832.2:c.931-94_931-93delinsCA NP_570845.1:n.931-94_931-93delinsCA
NM_130833.2:c.988-94_988-93delinsCA NP_570846.1:n.988-94_988-93delinsCA
NM_130834.2:c.1039-94_1039-93delinsCA NP_570847.2:n.1039-94_1039-93delinsCA
NM_130835.2:c.1042-94_1042-93delinsCA NP_570848.1:n.1042-94_1042-93delinsCA
NM_130836.2:c.1096-94_1096-93delinsCA NP_570849.2:n.1096-94_1096-93delinsCA
NM_130837.2:c.1150-94_1150-93delinsCA , LRG_337t2:c.1150-94_1150-93delinsCA NP_570850.2:n.1150-94_1150-93delinsCA
XM_011512863.1:c.1150-94_1150-93delinsCA XP_011511165.1:n.1150-94_1150-93delinsCA
XM_011512864.1:c.1096-94_1096-93delinsCA XP_011511166.1:n.1096-94_1096-93delinsCA
XM_011512865.1:c.1039-94_1039-93delinsCA XP_011511167.1:n.1039-94_1039-93delinsCA
XM_011512866.1:c.988-94_988-93delinsCA XP_011511168.1:n.988-94_988-93delinsCA
XM_011512867.1:c.985-94_985-93delinsCA XP_011511169.1:n.985-94_985-93delinsCA
XM_011512868.1:c.877-94_877-93delinsCA XP_011511170.1:n.877-94_877-93delinsCA
XM_011512869.1:c.1150-94_1150-93delinsCA XP_011511171.1:n.1150-94_1150-93delinsCA
NM_001354663.1:c.616-94_616-93delinsCA NP_001341592.1:n.616-94_616-93delinsCA
NM_001354664.1:c.613-94_613-93delinsCA NP_001341593.1:n.613-94_613-93delinsCA
XR_001740158.2:n.1379-94_1379-93delinsCA
XR_001740159.2:n.1214-94_1214-93delinsCA
NM_001354663.2:c.616-94_616-93delinsCA NP_001341592.1:n.616-94_616-93delinsCA
NM_001354664.2:c.613-94_613-93delinsCA NP_001341593.1:n.613-94_613-93delinsCA
NM_130831.3:c.877-94_877-93delinsCA NP_570844.1:n.877-94_877-93delinsCA
NM_130832.3:c.931-94_931-93delinsCA NP_570845.1:n.931-94_931-93delinsCA
NM_130834.3:c.1039-94_1039-93delinsCA NP_570847.2:n.1039-94_1039-93delinsCA
NM_130836.3:c.1096-94_1096-93delinsCA NP_570849.2:n.1096-94_1096-93delinsCA
NM_015560.3:c.985-94_985-93delinsCA NP_056375.2:n.985-94_985-93delinsCA
NM_130833.3:c.988-94_988-93delinsCA NP_570846.1:n.988-94_988-93delinsCA
NM_130835.3:c.1042-94_1042-93delinsCA NP_570848.1:n.1042-94_1042-93delinsCA
NM_130837.3:c.1150-94_1150-93delinsCA MANE Select NP_570850.2:n.1150-94_1150-93delinsCA