Canonical Allele Identifier: CA2759950977

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193663037_193663038insA , CM000665.2:g.193663037_193663038insA	GRCh38
NC_000003.11:g.193380826_193380827insA , CM000665.1:g.193380826_193380827insA	GRCh37
NC_000003.10:g.194863520_194863521insA	NCBI36
NG_011605.1:g.74894_74895insA , LRG_337:g.74894_74895insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661+75_2661+76insA MANE Select	ENSP00000355324.2:n.2661+75_2661+76insA
ENST00000361828.7:c.2496+75_2496+76insA	ENSP00000354429.3:n.2496+75_2496+76insA
ENST00000361908.8:c.2607+75_2607+76insA	ENSP00000354681.3:n.2607+75_2607+76insA
ENST00000392436.7:c.2496+75_2496+76insA	ENSP00000376231.3:n.2496+75_2496+76insA
ENST00000392437.6:c.2550+75_2550+76insA	ENSP00000376232.2:n.2550+75_2550+76insA
ENST00000642289.1:c.2435+75_2435+76insA
ENST00000642445.1:c.2496+75_2496+76insA	ENSP00000495535.1:n.2496+75_2496+76insA
ENST00000642593.1:c.*721+75_*721+76insA	ENSP00000494273.1:n.*721+75_*721+76insA
ENST00000643329.1:c.2178+75_2178+76insA	ENSP00000493673.1:n.2178+75_2178+76insA
ENST00000643737.1:c.*2577+75_*2577+76insA	ENSP00000494210.1:n.*2577+75_*2577+76insA
ENST00000644595.1:c.2496+75_2496+76insA	ENSP00000494121.1:n.2496+75_2496+76insA
ENST00000644629.1:c.2083+75_2083+76insA
ENST00000644841.1:c.*980+75_*980+76insA	ENSP00000493988.1:n.*980+75_*980+76insA
ENST00000644959.1:c.2490+75_2490+76insA
ENST00000645553.1:c.2511+75_2511+76insA	ENSP00000494725.1:n.2511+75_2511+76insA
ENST00000646085.1:c.*1974+75_*1974+76insA	ENSP00000494509.1:n.*1974+75_*1974+76insA
ENST00000646277.1:c.*1097+75_*1097+76insA	ENSP00000495289.1:n.*1097+75_*1097+76insA
ENST00000646544.1:c.1484+75_1484+76insA
ENST00000646699.1:c.2435+75_2435+76insA
ENST00000646793.1:c.2388+75_2388+76insA	ENSP00000494512.1:n.2388+75_2388+76insA
ENST00000361150.6:c.2499+75_2499+76insA	ENSP00000354781.2:n.2499+75_2499+76insA
ENST00000361510.6:c.2661+75_2661+76insA	ENSP00000355324.2:n.2661+75_2661+76insA
ENST00000361715.6:c.2553+75_2553+76insA	ENSP00000355311.2:n.2553+75_2553+76insA
ENST00000361828.6:c.2550+75_2550+76insA	ENSP00000354429.2:n.2550+75_2550+76insA
ENST00000361908.7:c.2607+75_2607+76insA	ENSP00000354681.3:n.2607+75_2607+76insA
ENST00000392438.7:c.2496+75_2496+76insA	ENSP00000376233.3:n.2496+75_2496+76insA
ENST00000445863.1:c.72+75_72+76insA	ENSP00000398358.1:n.72+75_72+76insA
NM_015560.2:c.2496+75_2496+76insA , LRG_337t1:c.2496+75_2496+76insA	NP_056375.2:n.2496+75_2496+76insA
NM_130831.2:c.2388+75_2388+76insA	NP_570844.1:n.2388+75_2388+76insA
NM_130832.2:c.2442+75_2442+76insA	NP_570845.1:n.2442+75_2442+76insA
NM_130833.2:c.2499+75_2499+76insA	NP_570846.1:n.2499+75_2499+76insA
NM_130834.2:c.2550+75_2550+76insA	NP_570847.2:n.2550+75_2550+76insA
NM_130835.2:c.2553+75_2553+76insA	NP_570848.1:n.2553+75_2553+76insA
NM_130836.2:c.2607+75_2607+76insA	NP_570849.2:n.2607+75_2607+76insA
NM_130837.2:c.2661+75_2661+76insA , LRG_337t2:c.2661+75_2661+76insA	NP_570850.2:n.2661+75_2661+76insA
XM_011512863.1:c.2661+75_2661+76insA	XP_011511165.1:n.2661+75_2661+76insA
XM_011512864.1:c.2607+75_2607+76insA	XP_011511166.1:n.2607+75_2607+76insA
XM_011512865.1:c.2550+75_2550+76insA	XP_011511167.1:n.2550+75_2550+76insA
XM_011512866.1:c.2499+75_2499+76insA	XP_011511168.1:n.2499+75_2499+76insA
XM_011512867.1:c.2496+75_2496+76insA	XP_011511169.1:n.2496+75_2496+76insA
XM_011512868.1:c.2388+75_2388+76insA	XP_011511170.1:n.2388+75_2388+76insA
XR_924835.1:n.582+5882_582+5883insT
NM_001354663.1:c.2127+75_2127+76insA	NP_001341592.1:n.2127+75_2127+76insA
NM_001354664.1:c.2124+75_2124+76insA	NP_001341593.1:n.2124+75_2124+76insA
XR_001740158.2:n.2915+75_2915+76insA
XR_001740159.2:n.2750+75_2750+76insA
XR_001741072.1:n.601-2953_601-2952insT
XR_001741074.1:n.475+7770_475+7771insT
XR_924835.2:n.600+5882_600+5883insT
NM_001354663.2:c.2127+75_2127+76insA	NP_001341592.1:n.2127+75_2127+76insA
NM_001354664.2:c.2124+75_2124+76insA	NP_001341593.1:n.2124+75_2124+76insA
NM_130831.3:c.2388+75_2388+76insA	NP_570844.1:n.2388+75_2388+76insA
NM_130832.3:c.2442+75_2442+76insA	NP_570845.1:n.2442+75_2442+76insA
NM_130834.3:c.2550+75_2550+76insA	NP_570847.2:n.2550+75_2550+76insA
NM_130836.3:c.2607+75_2607+76insA	NP_570849.2:n.2607+75_2607+76insA
NM_015560.3:c.2496+75_2496+76insA	NP_056375.2:n.2496+75_2496+76insA
NM_130833.3:c.2499+75_2499+76insA	NP_570846.1:n.2499+75_2499+76insA
NM_130835.3:c.2553+75_2553+76insA	NP_570848.1:n.2553+75_2553+76insA
NM_130837.3:c.2661+75_2661+76insA MANE Select	NP_570850.2:n.2661+75_2661+76insA