Canonical Allele Identifier: CA1430270808

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193663091_193663094delinsCAGT , CM000665.2:g.193663091_193663094delinsCAGT	GRCh38
NC_000003.11:g.193380880_193380883delinsCAGT , CM000665.1:g.193380880_193380883delinsCAGT	GRCh37
NC_000003.10:g.194863574_194863577delinsCAGT	NCBI36
NG_011605.1:g.74948_74951delinsCAGT , LRG_337:g.74948_74951delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661+129_2661+132delinsCAGT MANE Select	ENSP00000355324.2:n.2661+129_2661+132delinsCAGT
ENST00000361828.7:c.2496+129_2496+132delinsCAGT	ENSP00000354429.3:n.2496+129_2496+132delinsCAGT
ENST00000361908.8:c.2607+129_2607+132delinsCAGT	ENSP00000354681.3:n.2607+129_2607+132delinsCAGT
ENST00000392436.7:c.2496+129_2496+132delinsCAGT	ENSP00000376231.3:n.2496+129_2496+132delinsCAGT
ENST00000392437.6:c.2550+129_2550+132delinsCAGT	ENSP00000376232.2:n.2550+129_2550+132delinsCAGT
ENST00000642289.1:c.2435+129_2435+132delinsCAGT
ENST00000642445.1:c.2496+129_2496+132delinsCAGT	ENSP00000495535.1:n.2496+129_2496+132delinsCAGT
ENST00000642593.1:c.*721+129_*721+132delinsCAGT	ENSP00000494273.1:n.*721+129_*721+132delinsCAGT
ENST00000643329.1:c.2178+129_2178+132delinsCAGT	ENSP00000493673.1:n.2178+129_2178+132delinsCAGT
ENST00000643737.1:c.*2577+129_*2577+132delinsCAGT	ENSP00000494210.1:n.*2577+129_*2577+132delinsCAGT
ENST00000644595.1:c.2496+129_2496+132delinsCAGT	ENSP00000494121.1:n.2496+129_2496+132delinsCAGT
ENST00000644629.1:c.2083+129_2083+132delinsCAGT
ENST00000644841.1:c.*980+129_*980+132delinsCAGT	ENSP00000493988.1:n.*980+129_*980+132delinsCAGT
ENST00000644959.1:c.2490+129_2490+132delinsCAGT
ENST00000645553.1:c.2511+129_2511+132delinsCAGT	ENSP00000494725.1:n.2511+129_2511+132delinsCAGT
ENST00000646085.1:c.*1974+129_*1974+132delinsCAGT	ENSP00000494509.1:n.*1974+129_*1974+132delinsCAGT
ENST00000646277.1:c.*1097+129_*1097+132delinsCAGT	ENSP00000495289.1:n.*1097+129_*1097+132delinsCAGT
ENST00000646544.1:c.1484+129_1484+132delinsCAGT
ENST00000646699.1:c.2435+129_2435+132delinsCAGT
ENST00000646793.1:c.2388+129_2388+132delinsCAGT	ENSP00000494512.1:n.2388+129_2388+132delinsCAGT
ENST00000361150.6:c.2499+129_2499+132delinsCAGT	ENSP00000354781.2:n.2499+129_2499+132delinsCAGT
ENST00000361510.6:c.2661+129_2661+132delinsCAGT	ENSP00000355324.2:n.2661+129_2661+132delinsCAGT
ENST00000361715.6:c.2553+129_2553+132delinsCAGT	ENSP00000355311.2:n.2553+129_2553+132delinsCAGT
ENST00000361828.6:c.2550+129_2550+132delinsCAGT	ENSP00000354429.2:n.2550+129_2550+132delinsCAGT
ENST00000361908.7:c.2607+129_2607+132delinsCAGT	ENSP00000354681.3:n.2607+129_2607+132delinsCAGT
ENST00000392438.7:c.2496+129_2496+132delinsCAGT	ENSP00000376233.3:n.2496+129_2496+132delinsCAGT
ENST00000445863.1:c.72+129_72+132delinsCAGT	ENSP00000398358.1:n.72+129_72+132delinsCAGT
NM_015560.2:c.2496+129_2496+132delinsCAGT , LRG_337t1:c.2496+129_2496+132delinsCAGT	NP_056375.2:n.2496+129_2496+132delinsCAGT
NM_130831.2:c.2388+129_2388+132delinsCAGT	NP_570844.1:n.2388+129_2388+132delinsCAGT
NM_130832.2:c.2442+129_2442+132delinsCAGT	NP_570845.1:n.2442+129_2442+132delinsCAGT
NM_130833.2:c.2499+129_2499+132delinsCAGT	NP_570846.1:n.2499+129_2499+132delinsCAGT
NM_130834.2:c.2550+129_2550+132delinsCAGT	NP_570847.2:n.2550+129_2550+132delinsCAGT
NM_130835.2:c.2553+129_2553+132delinsCAGT	NP_570848.1:n.2553+129_2553+132delinsCAGT
NM_130836.2:c.2607+129_2607+132delinsCAGT	NP_570849.2:n.2607+129_2607+132delinsCAGT
NM_130837.2:c.2661+129_2661+132delinsCAGT , LRG_337t2:c.2661+129_2661+132delinsCAGT	NP_570850.2:n.2661+129_2661+132delinsCAGT
XM_011512863.1:c.2661+129_2661+132delinsCAGT	XP_011511165.1:n.2661+129_2661+132delinsCAGT
XM_011512864.1:c.2607+129_2607+132delinsCAGT	XP_011511166.1:n.2607+129_2607+132delinsCAGT
XM_011512865.1:c.2550+129_2550+132delinsCAGT	XP_011511167.1:n.2550+129_2550+132delinsCAGT
XM_011512866.1:c.2499+129_2499+132delinsCAGT	XP_011511168.1:n.2499+129_2499+132delinsCAGT
XM_011512867.1:c.2496+129_2496+132delinsCAGT	XP_011511169.1:n.2496+129_2496+132delinsCAGT
XM_011512868.1:c.2388+129_2388+132delinsCAGT	XP_011511170.1:n.2388+129_2388+132delinsCAGT
XR_924835.1:n.582+5826_582+5829delinsACTG
NM_001354663.1:c.2127+129_2127+132delinsCAGT	NP_001341592.1:n.2127+129_2127+132delinsCAGT
NM_001354664.1:c.2124+129_2124+132delinsCAGT	NP_001341593.1:n.2124+129_2124+132delinsCAGT
XR_001740158.2:n.2915+129_2915+132delinsCAGT
XR_001740159.2:n.2750+129_2750+132delinsCAGT
XR_001741072.1:n.601-3009_601-3006delinsACTG
XR_001741074.1:n.475+7714_475+7717delinsACTG
XR_924835.2:n.600+5826_600+5829delinsACTG
NM_001354663.2:c.2127+129_2127+132delinsCAGT	NP_001341592.1:n.2127+129_2127+132delinsCAGT
NM_001354664.2:c.2124+129_2124+132delinsCAGT	NP_001341593.1:n.2124+129_2124+132delinsCAGT
NM_130831.3:c.2388+129_2388+132delinsCAGT	NP_570844.1:n.2388+129_2388+132delinsCAGT
NM_130832.3:c.2442+129_2442+132delinsCAGT	NP_570845.1:n.2442+129_2442+132delinsCAGT
NM_130834.3:c.2550+129_2550+132delinsCAGT	NP_570847.2:n.2550+129_2550+132delinsCAGT
NM_130836.3:c.2607+129_2607+132delinsCAGT	NP_570849.2:n.2607+129_2607+132delinsCAGT
NM_015560.3:c.2496+129_2496+132delinsCAGT	NP_056375.2:n.2496+129_2496+132delinsCAGT
NM_130833.3:c.2499+129_2499+132delinsCAGT	NP_570846.1:n.2499+129_2499+132delinsCAGT
NM_130835.3:c.2553+129_2553+132delinsCAGT	NP_570848.1:n.2553+129_2553+132delinsCAGT
NM_130837.3:c.2661+129_2661+132delinsCAGT MANE Select	NP_570850.2:n.2661+129_2661+132delinsCAGT