Canonical Allele Identifier: CA2759950951

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662960_193662961insACA , CM000665.2:g.193662960_193662961insACA	GRCh38
NC_000003.11:g.193380749_193380750insACA , CM000665.1:g.193380749_193380750insACA	GRCh37
NC_000003.10:g.194863443_194863444insACA	NCBI36
NG_011605.1:g.74817_74818insACA , LRG_337:g.74817_74818insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2659_2660insACA MANE Select	ENSP00000355324.2:p.Leu887delinsTyrMet
ENST00000361828.7:c.2494_2495insACA	ENSP00000354429.3:p.Leu832delinsTyrMet
ENST00000361908.8:c.2605_2606insACA	ENSP00000354681.3:p.Leu869delinsTyrMet
ENST00000392436.7:c.2494_2495insACA	ENSP00000376231.3:p.Leu832delinsTyrMet
ENST00000392437.6:c.2548_2549insACA	ENSP00000376232.2:p.Leu850delinsTyrMet
ENST00000642289.1:c.2433_2434insACA
ENST00000642445.1:c.2494_2495insACA	ENSP00000495535.1:p.Leu832delinsTyrMet
ENST00000642593.1:c.*719_*720insACA	ENSP00000494273.1:n.*719_*720insACA
ENST00000643329.1:c.2176_2177insACA	ENSP00000493673.1:p.Leu726delinsTyrMet
ENST00000643737.1:c.*2575_*2576insACA	ENSP00000494210.1:n.*2575_*2576insACA
ENST00000644595.1:c.2494_2495insACA	ENSP00000494121.1:p.Leu832delinsTyrMet
ENST00000644629.1:c.2081_2082insACA
ENST00000644841.1:c.*978_*979insACA	ENSP00000493988.1:n.*978_*979insACA
ENST00000644959.1:c.2488_2489insACA
ENST00000645553.1:c.2509_2510insACA	ENSP00000494725.1:p.Leu837delinsTyrMet
ENST00000646085.1:c.*1972_*1973insACA	ENSP00000494509.1:n.*1972_*1973insACA
ENST00000646277.1:c.*1095_*1096insACA	ENSP00000495289.1:n.*1095_*1096insACA
ENST00000646544.1:c.1482_1483insACA
ENST00000646699.1:c.2433_2434insACA
ENST00000646793.1:c.2386_2387insACA	ENSP00000494512.1:p.Leu796delinsTyrMet
ENST00000361150.6:c.2497_2498insACA	ENSP00000354781.2:p.Leu833delinsTyrMet
ENST00000361510.6:c.2659_2660insACA	ENSP00000355324.2:p.Leu887delinsTyrMet
ENST00000361715.6:c.2551_2552insACA	ENSP00000355311.2:p.Leu851delinsTyrMet
ENST00000361828.6:c.2548_2549insACA	ENSP00000354429.2:p.Leu850delinsTyrMet
ENST00000361908.7:c.2605_2606insACA	ENSP00000354681.3:p.Leu869delinsTyrMet
ENST00000392438.7:c.2494_2495insACA	ENSP00000376233.3:p.Leu832delinsTyrMet
ENST00000445863.1:c.70_71insACA	ENSP00000398358.1:p.Leu24delinsTyrMet
NM_015560.2:c.2494_2495insACA , LRG_337t1:c.2494_2495insACA	NP_056375.2:p.Leu832delinsTyrMet
NM_130831.2:c.2386_2387insACA	NP_570844.1:p.Leu796delinsTyrMet
NM_130832.2:c.2440_2441insACA	NP_570845.1:p.Leu814delinsTyrMet
NM_130833.2:c.2497_2498insACA	NP_570846.1:p.Leu833delinsTyrMet
NM_130834.2:c.2548_2549insACA	NP_570847.2:p.Leu850delinsTyrMet
NM_130835.2:c.2551_2552insACA	NP_570848.1:p.Leu851delinsTyrMet
NM_130836.2:c.2605_2606insACA	NP_570849.2:p.Leu869delinsTyrMet
NM_130837.2:c.2659_2660insACA , LRG_337t2:c.2659_2660insACA	NP_570850.2:p.Leu887delinsTyrMet
XM_011512863.1:c.2659_2660insACA	XP_011511165.1:p.Leu887delinsTyrMet
XM_011512864.1:c.2605_2606insACA	XP_011511166.1:p.Leu869delinsTyrMet
XM_011512865.1:c.2548_2549insACA	XP_011511167.1:p.Leu850delinsTyrMet
XM_011512866.1:c.2497_2498insACA	XP_011511168.1:p.Leu833delinsTyrMet
XM_011512867.1:c.2494_2495insACA	XP_011511169.1:p.Leu832delinsTyrMet
XM_011512868.1:c.2386_2387insACA	XP_011511170.1:p.Leu796delinsTyrMet
XR_924835.1:n.582+5959_582+5960insTGT
NM_001354663.1:c.2125_2126insACA	NP_001341592.1:p.Leu709delinsTyrMet
NM_001354664.1:c.2122_2123insACA	NP_001341593.1:p.Leu708delinsTyrMet
XR_001740158.2:n.2913_2914insACA
XR_001740159.2:n.2748_2749insACA
XR_001741072.1:n.601-2876_601-2875insTGT
XR_001741074.1:n.475+7847_475+7848insTGT
XR_924835.2:n.600+5959_600+5960insTGT
NM_001354663.2:c.2125_2126insACA	NP_001341592.1:p.Leu709delinsTyrMet
NM_001354664.2:c.2122_2123insACA	NP_001341593.1:p.Leu708delinsTyrMet
NM_130831.3:c.2386_2387insACA	NP_570844.1:p.Leu796delinsTyrMet
NM_130832.3:c.2440_2441insACA	NP_570845.1:p.Leu814delinsTyrMet
NM_130834.3:c.2548_2549insACA	NP_570847.2:p.Leu850delinsTyrMet
NM_130836.3:c.2605_2606insACA	NP_570849.2:p.Leu869delinsTyrMet
NM_015560.3:c.2494_2495insACA	NP_056375.2:p.Leu832delinsTyrMet
NM_130833.3:c.2497_2498insACA	NP_570846.1:p.Leu833delinsTyrMet
NM_130835.3:c.2551_2552insACA	NP_570848.1:p.Leu851delinsTyrMet
NM_130837.3:c.2659_2660insACA MANE Select	NP_570850.2:p.Leu887delinsTyrMet