Canonical Allele Identifier: CA2759951022

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193663115_193663116insAGG , CM000665.2:g.193663115_193663116insAGG	GRCh38
NC_000003.11:g.193380904_193380905insAGG , CM000665.1:g.193380904_193380905insAGG	GRCh37
NC_000003.10:g.194863598_194863599insAGG	NCBI36
NG_011605.1:g.74972_74973insAGG , LRG_337:g.74972_74973insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661+153_2661+154insAGG MANE Select	ENSP00000355324.2:n.2661+153_2661+154insAGG
ENST00000361828.7:c.2496+153_2496+154insAGG	ENSP00000354429.3:n.2496+153_2496+154insAGG
ENST00000361908.8:c.2607+153_2607+154insAGG	ENSP00000354681.3:n.2607+153_2607+154insAGG
ENST00000392436.7:c.2496+153_2496+154insAGG	ENSP00000376231.3:n.2496+153_2496+154insAGG
ENST00000392437.6:c.2550+153_2550+154insAGG	ENSP00000376232.2:n.2550+153_2550+154insAGG
ENST00000642289.1:c.2435+153_2435+154insAGG
ENST00000642445.1:c.2496+153_2496+154insAGG	ENSP00000495535.1:n.2496+153_2496+154insAGG
ENST00000642593.1:c.*721+153_*721+154insAGG	ENSP00000494273.1:n.*721+153_*721+154insAGG
ENST00000643329.1:c.2178+153_2178+154insAGG	ENSP00000493673.1:n.2178+153_2178+154insAGG
ENST00000643737.1:c.*2577+153_*2577+154insAGG	ENSP00000494210.1:n.*2577+153_*2577+154insAGG
ENST00000644595.1:c.2496+153_2496+154insAGG	ENSP00000494121.1:n.2496+153_2496+154insAGG
ENST00000644629.1:c.2083+153_2083+154insAGG
ENST00000644841.1:c.*980+153_*980+154insAGG	ENSP00000493988.1:n.*980+153_*980+154insAGG
ENST00000644959.1:c.2490+153_2490+154insAGG
ENST00000645553.1:c.2511+153_2511+154insAGG	ENSP00000494725.1:n.2511+153_2511+154insAGG
ENST00000646085.1:c.*1974+153_*1974+154insAGG	ENSP00000494509.1:n.*1974+153_*1974+154insAGG
ENST00000646277.1:c.*1097+153_*1097+154insAGG	ENSP00000495289.1:n.*1097+153_*1097+154insAGG
ENST00000646544.1:c.1484+153_1484+154insAGG
ENST00000646699.1:c.2435+153_2435+154insAGG
ENST00000646793.1:c.2388+153_2388+154insAGG	ENSP00000494512.1:n.2388+153_2388+154insAGG
ENST00000361150.6:c.2499+153_2499+154insAGG	ENSP00000354781.2:n.2499+153_2499+154insAGG
ENST00000361510.6:c.2661+153_2661+154insAGG	ENSP00000355324.2:n.2661+153_2661+154insAGG
ENST00000361715.6:c.2553+153_2553+154insAGG	ENSP00000355311.2:n.2553+153_2553+154insAGG
ENST00000361828.6:c.2550+153_2550+154insAGG	ENSP00000354429.2:n.2550+153_2550+154insAGG
ENST00000361908.7:c.2607+153_2607+154insAGG	ENSP00000354681.3:n.2607+153_2607+154insAGG
ENST00000392438.7:c.2496+153_2496+154insAGG	ENSP00000376233.3:n.2496+153_2496+154insAGG
ENST00000445863.1:c.72+153_72+154insAGG	ENSP00000398358.1:n.72+153_72+154insAGG
NM_015560.2:c.2496+153_2496+154insAGG , LRG_337t1:c.2496+153_2496+154insAGG	NP_056375.2:n.2496+153_2496+154insAGG
NM_130831.2:c.2388+153_2388+154insAGG	NP_570844.1:n.2388+153_2388+154insAGG
NM_130832.2:c.2442+153_2442+154insAGG	NP_570845.1:n.2442+153_2442+154insAGG
NM_130833.2:c.2499+153_2499+154insAGG	NP_570846.1:n.2499+153_2499+154insAGG
NM_130834.2:c.2550+153_2550+154insAGG	NP_570847.2:n.2550+153_2550+154insAGG
NM_130835.2:c.2553+153_2553+154insAGG	NP_570848.1:n.2553+153_2553+154insAGG
NM_130836.2:c.2607+153_2607+154insAGG	NP_570849.2:n.2607+153_2607+154insAGG
NM_130837.2:c.2661+153_2661+154insAGG , LRG_337t2:c.2661+153_2661+154insAGG	NP_570850.2:n.2661+153_2661+154insAGG
XM_011512863.1:c.2661+153_2661+154insAGG	XP_011511165.1:n.2661+153_2661+154insAGG
XM_011512864.1:c.2607+153_2607+154insAGG	XP_011511166.1:n.2607+153_2607+154insAGG
XM_011512865.1:c.2550+153_2550+154insAGG	XP_011511167.1:n.2550+153_2550+154insAGG
XM_011512866.1:c.2499+153_2499+154insAGG	XP_011511168.1:n.2499+153_2499+154insAGG
XM_011512867.1:c.2496+153_2496+154insAGG	XP_011511169.1:n.2496+153_2496+154insAGG
XM_011512868.1:c.2388+153_2388+154insAGG	XP_011511170.1:n.2388+153_2388+154insAGG
XR_924835.1:n.582+5804_582+5805insCCT
NM_001354663.1:c.2127+153_2127+154insAGG	NP_001341592.1:n.2127+153_2127+154insAGG
NM_001354664.1:c.2124+153_2124+154insAGG	NP_001341593.1:n.2124+153_2124+154insAGG
XR_001740158.2:n.2915+153_2915+154insAGG
XR_001740159.2:n.2750+153_2750+154insAGG
XR_001741072.1:n.601-3031_601-3030insCCT
XR_001741074.1:n.475+7692_475+7693insCCT
XR_924835.2:n.600+5804_600+5805insCCT
NM_001354663.2:c.2127+153_2127+154insAGG	NP_001341592.1:n.2127+153_2127+154insAGG
NM_001354664.2:c.2124+153_2124+154insAGG	NP_001341593.1:n.2124+153_2124+154insAGG
NM_130831.3:c.2388+153_2388+154insAGG	NP_570844.1:n.2388+153_2388+154insAGG
NM_130832.3:c.2442+153_2442+154insAGG	NP_570845.1:n.2442+153_2442+154insAGG
NM_130834.3:c.2550+153_2550+154insAGG	NP_570847.2:n.2550+153_2550+154insAGG
NM_130836.3:c.2607+153_2607+154insAGG	NP_570849.2:n.2607+153_2607+154insAGG
NM_015560.3:c.2496+153_2496+154insAGG	NP_056375.2:n.2496+153_2496+154insAGG
NM_130833.3:c.2499+153_2499+154insAGG	NP_570846.1:n.2499+153_2499+154insAGG
NM_130835.3:c.2553+153_2553+154insAGG	NP_570848.1:n.2553+153_2553+154insAGG
NM_130837.3:c.2661+153_2661+154insAGG MANE Select	NP_570850.2:n.2661+153_2661+154insAGG