Canonical Allele Identifier: CA2759950996

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193663063_193663064del , CM000665.2:g.193663063_193663064del	GRCh38
NC_000003.11:g.193380852_193380853del , CM000665.1:g.193380852_193380853del	GRCh37
NC_000003.10:g.194863546_194863547del	NCBI36
NG_011605.1:g.74920_74921del , LRG_337:g.74920_74921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2661+101_2661+102del MANE Select	ENSP00000355324.2:n.2661+101_2661+102del
ENST00000361828.7:c.2496+101_2496+102del	ENSP00000354429.3:n.2496+101_2496+102del
ENST00000361908.8:c.2607+101_2607+102del	ENSP00000354681.3:n.2607+101_2607+102del
ENST00000392436.7:c.2496+101_2496+102del	ENSP00000376231.3:n.2496+101_2496+102del
ENST00000392437.6:c.2550+101_2550+102del	ENSP00000376232.2:n.2550+101_2550+102del
ENST00000642289.1:c.2435+101_2435+102del
ENST00000642445.1:c.2496+101_2496+102del	ENSP00000495535.1:n.2496+101_2496+102del
ENST00000642593.1:c.*721+101_*721+102del	ENSP00000494273.1:n.*721+101_*721+102del
ENST00000643329.1:c.2178+101_2178+102del	ENSP00000493673.1:n.2178+101_2178+102del
ENST00000643737.1:c.*2577+101_*2577+102del	ENSP00000494210.1:n.*2577+101_*2577+102del
ENST00000644595.1:c.2496+101_2496+102del	ENSP00000494121.1:n.2496+101_2496+102del
ENST00000644629.1:c.2083+101_2083+102del
ENST00000644841.1:c.*980+101_*980+102del	ENSP00000493988.1:n.*980+101_*980+102del
ENST00000644959.1:c.2490+101_2490+102del
ENST00000645553.1:c.2511+101_2511+102del	ENSP00000494725.1:n.2511+101_2511+102del
ENST00000646085.1:c.*1974+101_*1974+102del	ENSP00000494509.1:n.*1974+101_*1974+102del
ENST00000646277.1:c.*1097+101_*1097+102del	ENSP00000495289.1:n.*1097+101_*1097+102del
ENST00000646544.1:c.1484+101_1484+102del
ENST00000646699.1:c.2435+101_2435+102del
ENST00000646793.1:c.2388+101_2388+102del	ENSP00000494512.1:n.2388+101_2388+102del
ENST00000361150.6:c.2499+101_2499+102del	ENSP00000354781.2:n.2499+101_2499+102del
ENST00000361510.6:c.2661+101_2661+102del	ENSP00000355324.2:n.2661+101_2661+102del
ENST00000361715.6:c.2553+101_2553+102del	ENSP00000355311.2:n.2553+101_2553+102del
ENST00000361828.6:c.2550+101_2550+102del	ENSP00000354429.2:n.2550+101_2550+102del
ENST00000361908.7:c.2607+101_2607+102del	ENSP00000354681.3:n.2607+101_2607+102del
ENST00000392438.7:c.2496+101_2496+102del	ENSP00000376233.3:n.2496+101_2496+102del
ENST00000445863.1:c.72+101_72+102del	ENSP00000398358.1:n.72+101_72+102del
NM_015560.2:c.2496+101_2496+102del , LRG_337t1:c.2496+101_2496+102del	NP_056375.2:n.2496+101_2496+102del
NM_130831.2:c.2388+101_2388+102del	NP_570844.1:n.2388+101_2388+102del
NM_130832.2:c.2442+101_2442+102del	NP_570845.1:n.2442+101_2442+102del
NM_130833.2:c.2499+101_2499+102del	NP_570846.1:n.2499+101_2499+102del
NM_130834.2:c.2550+101_2550+102del	NP_570847.2:n.2550+101_2550+102del
NM_130835.2:c.2553+101_2553+102del	NP_570848.1:n.2553+101_2553+102del
NM_130836.2:c.2607+101_2607+102del	NP_570849.2:n.2607+101_2607+102del
NM_130837.2:c.2661+101_2661+102del , LRG_337t2:c.2661+101_2661+102del	NP_570850.2:n.2661+101_2661+102del
XM_011512863.1:c.2661+101_2661+102del	XP_011511165.1:n.2661+101_2661+102del
XM_011512864.1:c.2607+101_2607+102del	XP_011511166.1:n.2607+101_2607+102del
XM_011512865.1:c.2550+101_2550+102del	XP_011511167.1:n.2550+101_2550+102del
XM_011512866.1:c.2499+101_2499+102del	XP_011511168.1:n.2499+101_2499+102del
XM_011512867.1:c.2496+101_2496+102del	XP_011511169.1:n.2496+101_2496+102del
XM_011512868.1:c.2388+101_2388+102del	XP_011511170.1:n.2388+101_2388+102del
XR_924835.1:n.582+5856_582+5857del
NM_001354663.1:c.2127+101_2127+102del	NP_001341592.1:n.2127+101_2127+102del
NM_001354664.1:c.2124+101_2124+102del	NP_001341593.1:n.2124+101_2124+102del
XR_001740158.2:n.2915+101_2915+102del
XR_001740159.2:n.2750+101_2750+102del
XR_001741072.1:n.601-2979_601-2978del
XR_001741074.1:n.475+7744_475+7745del
XR_924835.2:n.600+5856_600+5857del
NM_001354663.2:c.2127+101_2127+102del	NP_001341592.1:n.2127+101_2127+102del
NM_001354664.2:c.2124+101_2124+102del	NP_001341593.1:n.2124+101_2124+102del
NM_130831.3:c.2388+101_2388+102del	NP_570844.1:n.2388+101_2388+102del
NM_130832.3:c.2442+101_2442+102del	NP_570845.1:n.2442+101_2442+102del
NM_130834.3:c.2550+101_2550+102del	NP_570847.2:n.2550+101_2550+102del
NM_130836.3:c.2607+101_2607+102del	NP_570849.2:n.2607+101_2607+102del
NM_015560.3:c.2496+101_2496+102del	NP_056375.2:n.2496+101_2496+102del
NM_130833.3:c.2499+101_2499+102del	NP_570846.1:n.2499+101_2499+102del
NM_130835.3:c.2553+101_2553+102del	NP_570848.1:n.2553+101_2553+102del
NM_130837.3:c.2661+101_2661+102del MANE Select	NP_570850.2:n.2661+101_2661+102del