Canonical Allele Identifier: CA16617863
Gene: OPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1064794208

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193637205_193637208del , CM000665.2:g.193637205_193637208del GRCh38
NC_000003.11:g.193354994_193354997del , CM000665.1:g.193354994_193354997del GRCh37
NC_000003.10:g.194837688_194837691del NCBI36
NG_011605.1:g.49062_49065del , LRG_337:g.49062_49065del

Transcript Alleles

HGVS Amino-acid change
ENST00000361510.8:c.959_962del MANE Select ENSP00000355324.2:p.Ile320ThrfsTer?
ENST00000361828.7:c.794_797del ENSP00000354429.3:p.Ile265ThrfsTer?
ENST00000361908.8:c.905_908del ENSP00000354681.3:p.Ile302ThrfsTer?
ENST00000392436.7:c.794_797del ENSP00000376231.3:p.Ile265ThrfsTer?
ENST00000392437.6:c.848_851del ENSP00000376232.2:p.Ile283ThrfsTer?
ENST00000642289.1:c.889_892del
ENST00000642445.1:c.794_797del ENSP00000495535.1:p.Ile265ThrfsTer?
ENST00000642593.1:c.794_797del ENSP00000494273.1:p.Ile265ThrfsTer?
ENST00000643329.1:c.476_479del ENSP00000493673.1:p.Ile159ThrfsTer?
ENST00000643737.1:c.*875_*878del ENSP00000494210.1:n.*875_*878del
ENST00000644595.1:c.794_797del ENSP00000494121.1:p.Ile265ThrfsTer?
ENST00000644629.1:c.454_457del
ENST00000644841.1:c.422_425del ENSP00000493988.1:p.Ile141ThrfsTer?
ENST00000644959.1:c.763_766del
ENST00000645553.1:c.809_812del ENSP00000494725.1:p.Ile270ThrfsTer?
ENST00000646085.1:c.*272_*275del ENSP00000494509.1:n.*272_*275del
ENST00000646277.1:c.959_962del ENSP00000495289.1:p.Ile320ThrfsTer?
ENST00000646699.1:c.889_892del
ENST00000646793.1:c.686_689del ENSP00000494512.1:p.Ile229ThrfsTer?
ENST00000361150.6:c.797_800del ENSP00000354781.2:p.Ile266ThrfsTer?
ENST00000361510.6:c.959_962del ENSP00000355324.2:p.Ile320ThrfsTer?
ENST00000361715.6:c.851_854del ENSP00000355311.2:p.Ile284ThrfsTer?
ENST00000361828.6:c.848_851del ENSP00000354429.2:p.Ile283ThrfsTer?
ENST00000361908.7:c.905_908del ENSP00000354681.3:p.Ile302ThrfsTer?
ENST00000392438.7:c.794_797del ENSP00000376233.3:p.Ile265ThrfsTer?
ENST00000434811.1:c.547_550del
ENST00000495476.1:n.315_318del
ENST00000497189.5:n.280_283del
NM_015560.2:c.794_797del , LRG_337t1:c.794_797del NP_056375.2:p.Ile265ThrfsTer?
NM_130831.2:c.686_689del NP_570844.1:p.Ile229ThrfsTer?
NM_130832.2:c.740_743del NP_570845.1:p.Ile247ThrfsTer?
NM_130833.2:c.797_800del NP_570846.1:p.Ile266ThrfsTer?
NM_130834.2:c.848_851del NP_570847.2:p.Ile283ThrfsTer?
NM_130835.2:c.851_854del NP_570848.1:p.Ile284ThrfsTer?
NM_130836.2:c.905_908del NP_570849.2:p.Ile302ThrfsTer?
NM_130837.2:c.959_962del , LRG_337t2:c.959_962del NP_570850.2:p.Ile320ThrfsTer?
XM_011512863.1:c.959_962del XP_011511165.1:p.Ile320ThrfsTer?
XM_011512864.1:c.905_908del XP_011511166.1:p.Ile302ThrfsTer?
XM_011512865.1:c.848_851del XP_011511167.1:p.Ile283ThrfsTer?
XM_011512866.1:c.797_800del XP_011511168.1:p.Ile266ThrfsTer?
XM_011512867.1:c.794_797del XP_011511169.1:p.Ile265ThrfsTer?
XM_011512868.1:c.686_689del XP_011511170.1:p.Ile229ThrfsTer?
XM_011512869.1:c.959_962del XP_011511171.1:p.Ile320ThrfsTer?
NM_001354663.1:c.425_428del NP_001341592.1:p.Ile142ThrfsTer?
NM_001354664.1:c.422_425del NP_001341593.1:p.Ile141ThrfsTer?
XR_001740158.2:n.1188_1191del
XR_001740159.2:n.1023_1026del
NM_001354663.2:c.425_428del NP_001341592.1:p.Ile142ThrfsTer?
NM_001354664.2:c.422_425del NP_001341593.1:p.Ile141ThrfsTer?
NM_130831.3:c.686_689del NP_570844.1:p.Ile229ThrfsTer?
NM_130832.3:c.740_743del NP_570845.1:p.Ile247ThrfsTer?
NM_130834.3:c.848_851del NP_570847.2:p.Ile283ThrfsTer?
NM_130836.3:c.905_908del NP_570849.2:p.Ile302ThrfsTer?
NM_015560.3:c.794_797del NP_056375.2:p.Ile265ThrfsTer?
NM_130833.3:c.797_800del NP_570846.1:p.Ile266ThrfsTer?
NM_130835.3:c.851_854del NP_570848.1:p.Ile284ThrfsTer?
NM_130837.3:c.959_962del MANE Select NP_570850.2:p.Ile320ThrfsTer?