Canonical Allele Identifier: CA1430270731

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662965_193662967delinsAAT , CM000665.2:g.193662965_193662967delinsAAT	GRCh38
NC_000003.11:g.193380754_193380756delinsAAT , CM000665.1:g.193380754_193380756delinsAAT	GRCh37
NC_000003.10:g.194863448_194863450delinsAAT	NCBI36
NG_011605.1:g.74822_74824delinsAAT , LRG_337:g.74822_74824delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661+3_2661+5delinsAAT MANE Select	ENSP00000355324.2:n.2661+3_2661+5delinsAAT
ENST00000361828.7:c.2496+3_2496+5delinsAAT	ENSP00000354429.3:n.2496+3_2496+5delinsAAT
ENST00000361908.8:c.2607+3_2607+5delinsAAT	ENSP00000354681.3:n.2607+3_2607+5delinsAAT
ENST00000392436.7:c.2496+3_2496+5delinsAAT	ENSP00000376231.3:n.2496+3_2496+5delinsAAT
ENST00000392437.6:c.2550+3_2550+5delinsAAT	ENSP00000376232.2:n.2550+3_2550+5delinsAAT
ENST00000642289.1:c.2435+3_2435+5delinsAAT
ENST00000642445.1:c.2496+3_2496+5delinsAAT	ENSP00000495535.1:n.2496+3_2496+5delinsAAT
ENST00000642593.1:c.*721+3_*721+5delinsAAT	ENSP00000494273.1:n.*721+3_*721+5delinsAAT
ENST00000643329.1:c.2178+3_2178+5delinsAAT	ENSP00000493673.1:n.2178+3_2178+5delinsAAT
ENST00000643737.1:c.*2577+3_*2577+5delinsAAT	ENSP00000494210.1:n.*2577+3_*2577+5delinsAAT
ENST00000644595.1:c.2496+3_2496+5delinsAAT	ENSP00000494121.1:n.2496+3_2496+5delinsAAT
ENST00000644629.1:c.2083+3_2083+5delinsAAT
ENST00000644841.1:c.*980+3_*980+5delinsAAT	ENSP00000493988.1:n.*980+3_*980+5delinsAAT
ENST00000644959.1:c.2490+3_2490+5delinsAAT
ENST00000645553.1:c.2511+3_2511+5delinsAAT	ENSP00000494725.1:n.2511+3_2511+5delinsAAT
ENST00000646085.1:c.*1974+3_*1974+5delinsAAT	ENSP00000494509.1:n.*1974+3_*1974+5delinsAAT
ENST00000646277.1:c.*1097+3_*1097+5delinsAAT	ENSP00000495289.1:n.*1097+3_*1097+5delinsAAT
ENST00000646544.1:c.1484+3_1484+5delinsAAT
ENST00000646699.1:c.2435+3_2435+5delinsAAT
ENST00000646793.1:c.2388+3_2388+5delinsAAT	ENSP00000494512.1:n.2388+3_2388+5delinsAAT
ENST00000361150.6:c.2499+3_2499+5delinsAAT	ENSP00000354781.2:n.2499+3_2499+5delinsAAT
ENST00000361510.6:c.2661+3_2661+5delinsAAT	ENSP00000355324.2:n.2661+3_2661+5delinsAAT
ENST00000361715.6:c.2553+3_2553+5delinsAAT	ENSP00000355311.2:n.2553+3_2553+5delinsAAT
ENST00000361828.6:c.2550+3_2550+5delinsAAT	ENSP00000354429.2:n.2550+3_2550+5delinsAAT
ENST00000361908.7:c.2607+3_2607+5delinsAAT	ENSP00000354681.3:n.2607+3_2607+5delinsAAT
ENST00000392438.7:c.2496+3_2496+5delinsAAT	ENSP00000376233.3:n.2496+3_2496+5delinsAAT
ENST00000445863.1:c.72+3_72+5delinsAAT	ENSP00000398358.1:n.72+3_72+5delinsAAT
NM_015560.2:c.2496+3_2496+5delinsAAT , LRG_337t1:c.2496+3_2496+5delinsAAT	NP_056375.2:n.2496+3_2496+5delinsAAT
NM_130831.2:c.2388+3_2388+5delinsAAT	NP_570844.1:n.2388+3_2388+5delinsAAT
NM_130832.2:c.2442+3_2442+5delinsAAT	NP_570845.1:n.2442+3_2442+5delinsAAT
NM_130833.2:c.2499+3_2499+5delinsAAT	NP_570846.1:n.2499+3_2499+5delinsAAT
NM_130834.2:c.2550+3_2550+5delinsAAT	NP_570847.2:n.2550+3_2550+5delinsAAT
NM_130835.2:c.2553+3_2553+5delinsAAT	NP_570848.1:n.2553+3_2553+5delinsAAT
NM_130836.2:c.2607+3_2607+5delinsAAT	NP_570849.2:n.2607+3_2607+5delinsAAT
NM_130837.2:c.2661+3_2661+5delinsAAT , LRG_337t2:c.2661+3_2661+5delinsAAT	NP_570850.2:n.2661+3_2661+5delinsAAT
XM_011512863.1:c.2661+3_2661+5delinsAAT	XP_011511165.1:n.2661+3_2661+5delinsAAT
XM_011512864.1:c.2607+3_2607+5delinsAAT	XP_011511166.1:n.2607+3_2607+5delinsAAT
XM_011512865.1:c.2550+3_2550+5delinsAAT	XP_011511167.1:n.2550+3_2550+5delinsAAT
XM_011512866.1:c.2499+3_2499+5delinsAAT	XP_011511168.1:n.2499+3_2499+5delinsAAT
XM_011512867.1:c.2496+3_2496+5delinsAAT	XP_011511169.1:n.2496+3_2496+5delinsAAT
XM_011512868.1:c.2388+3_2388+5delinsAAT	XP_011511170.1:n.2388+3_2388+5delinsAAT
XR_924835.1:n.582+5953_582+5955delinsATT
NM_001354663.1:c.2127+3_2127+5delinsAAT	NP_001341592.1:n.2127+3_2127+5delinsAAT
NM_001354664.1:c.2124+3_2124+5delinsAAT	NP_001341593.1:n.2124+3_2124+5delinsAAT
XR_001740158.2:n.2915+3_2915+5delinsAAT
XR_001740159.2:n.2750+3_2750+5delinsAAT
XR_001741072.1:n.601-2882_601-2880delinsATT
XR_001741074.1:n.475+7841_475+7843delinsATT
XR_924835.2:n.600+5953_600+5955delinsATT
NM_001354663.2:c.2127+3_2127+5delinsAAT	NP_001341592.1:n.2127+3_2127+5delinsAAT
NM_001354664.2:c.2124+3_2124+5delinsAAT	NP_001341593.1:n.2124+3_2124+5delinsAAT
NM_130831.3:c.2388+3_2388+5delinsAAT	NP_570844.1:n.2388+3_2388+5delinsAAT
NM_130832.3:c.2442+3_2442+5delinsAAT	NP_570845.1:n.2442+3_2442+5delinsAAT
NM_130834.3:c.2550+3_2550+5delinsAAT	NP_570847.2:n.2550+3_2550+5delinsAAT
NM_130836.3:c.2607+3_2607+5delinsAAT	NP_570849.2:n.2607+3_2607+5delinsAAT
NM_015560.3:c.2496+3_2496+5delinsAAT	NP_056375.2:n.2496+3_2496+5delinsAAT
NM_130833.3:c.2499+3_2499+5delinsAAT	NP_570846.1:n.2499+3_2499+5delinsAAT
NM_130835.3:c.2553+3_2553+5delinsAAT	NP_570848.1:n.2553+3_2553+5delinsAAT
NM_130837.3:c.2661+3_2661+5delinsAAT MANE Select	NP_570850.2:n.2661+3_2661+5delinsAAT