Canonical Allele Identifier: CA2586973389

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667252_193667260delinsAAAACACCG , CM000665.2:g.193667252_193667260delinsAAAACACCG	GRCh38
NC_000003.11:g.193385041_193385049delinsAAAACACCG , CM000665.1:g.193385041_193385049delinsAAAACACCG	GRCh37
NC_000003.10:g.194867735_194867743delinsAAAACACCG	NCBI36
NG_011605.1:g.79109_79117delinsAAAACACCG , LRG_337:g.79109_79117delinsAAAACACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2955_2963delinsAAAACACCG MANE Select	ENSP00000355324.2:p.Arg987_Val988delinsHisArg
ENST00000361828.7:c.2790_2798delinsAAAACACCG	ENSP00000354429.3:p.Arg932_Val933delinsHisArg
ENST00000361908.8:c.2901_2909delinsAAAACACCG	ENSP00000354681.3:p.Arg969_Val970delinsHisArg
ENST00000392436.7:c.2790_2798delinsAAAACACCG	ENSP00000376231.3:p.Arg932_Val933delinsHisArg
ENST00000392437.6:c.2844_2852delinsAAAACACCG	ENSP00000376232.2:p.Arg950_Val951delinsHisArg
ENST00000642289.1:c.2729_2737delinsAAAACACCG
ENST00000642445.1:c.2790_2798delinsAAAACACCG	ENSP00000495535.1:p.Arg932_Val933delinsHisArg
ENST00000642593.1:c.*1015_*1023delinsAAAACACCG	ENSP00000494273.1:n.*1015_*1023delinsAAAACACCG
ENST00000643329.1:c.2472_2480delinsAAAACACCG	ENSP00000493673.1:p.Arg826_Val827delinsHisArg
ENST00000643737.1:c.*2871_*2879delinsAAAACACCG	ENSP00000494210.1:n.*2871_*2879delinsAAAACACCG
ENST00000644595.1:c.2790_2798delinsAAAACACCG	ENSP00000494121.1:p.Arg932_Val933delinsHisArg
ENST00000644629.1:c.2377_2385delinsAAAACACCG
ENST00000644841.1:c.*1274_*1282delinsAAAACACCG	ENSP00000493988.1:n.*1274_*1282delinsAAAACACCG
ENST00000644959.1:c.2784_2792delinsAAAACACCG
ENST00000645553.1:c.2805_2813delinsAAAACACCG	ENSP00000494725.1:p.Arg937_Val938delinsHisArg
ENST00000646085.1:c.*2268_*2276delinsAAAACACCG	ENSP00000494509.1:n.*2268_*2276delinsAAAACACCG
ENST00000646277.1:c.*1391_*1399delinsAAAACACCG	ENSP00000495289.1:n.*1391_*1399delinsAAAACACCG
ENST00000646544.1:c.1778_1786delinsAAAACACCG
ENST00000646699.1:c.2729_2737delinsAAAACACCG
ENST00000646793.1:c.2682_2690delinsAAAACACCG	ENSP00000494512.1:p.Arg896_Val897delinsHisArg
ENST00000361150.6:c.2793_2801delinsAAAACACCG	ENSP00000354781.2:p.Arg933_Val934delinsHisArg
ENST00000361510.6:c.2955_2963delinsAAAACACCG	ENSP00000355324.2:p.Arg987_Val988delinsHisArg
ENST00000361715.6:c.2847_2855delinsAAAACACCG	ENSP00000355311.2:p.Arg951_Val952delinsHisArg
ENST00000361828.6:c.2844_2852delinsAAAACACCG	ENSP00000354429.2:p.Arg950_Val951delinsHisArg
ENST00000361908.7:c.2901_2909delinsAAAACACCG	ENSP00000354681.3:p.Arg969_Val970delinsHisArg
ENST00000392438.7:c.2790_2798delinsAAAACACCG	ENSP00000376233.3:p.Arg932_Val933delinsHisArg
ENST00000429164.1:c.77_85delinsAAAACACCG
ENST00000445863.1:c.366_374delinsAAAACACCG	ENSP00000398358.1:p.Arg124_Val125delinsHisArg
NM_015560.2:c.2790_2798delinsAAAACACCG , LRG_337t1:c.2790_2798delinsAAAACACCG	NP_056375.2:p.Arg932_Val933delinsHisArg
NM_130831.2:c.2682_2690delinsAAAACACCG	NP_570844.1:p.Arg896_Val897delinsHisArg
NM_130832.2:c.2736_2744delinsAAAACACCG	NP_570845.1:p.Arg914_Val915delinsHisArg
NM_130833.2:c.2793_2801delinsAAAACACCG	NP_570846.1:p.Arg933_Val934delinsHisArg
NM_130834.2:c.2844_2852delinsAAAACACCG	NP_570847.2:p.Arg950_Val951delinsHisArg
NM_130835.2:c.2847_2855delinsAAAACACCG	NP_570848.1:p.Arg951_Val952delinsHisArg
NM_130836.2:c.2901_2909delinsAAAACACCG	NP_570849.2:p.Arg969_Val970delinsHisArg
NM_130837.2:c.2955_2963delinsAAAACACCG , LRG_337t2:c.2955_2963delinsAAAACACCG	NP_570850.2:p.Arg987_Val988delinsHisArg
XM_011512863.1:c.2955_2963delinsAAAACACCG	XP_011511165.1:p.Arg987_Val988delinsHisArg
XM_011512864.1:c.2901_2909delinsAAAACACCG	XP_011511166.1:p.Arg969_Val970delinsHisArg
XM_011512865.1:c.2844_2852delinsAAAACACCG	XP_011511167.1:p.Arg950_Val951delinsHisArg
XM_011512866.1:c.2793_2801delinsAAAACACCG	XP_011511168.1:p.Arg933_Val934delinsHisArg
XM_011512867.1:c.2790_2798delinsAAAACACCG	XP_011511169.1:p.Arg932_Val933delinsHisArg
XM_011512868.1:c.2682_2690delinsAAAACACCG	XP_011511170.1:p.Arg896_Val897delinsHisArg
XR_924835.1:n.582+1660_582+1668delinsCGGTGTTTT
NM_001354663.1:c.2421_2429delinsAAAACACCG	NP_001341592.1:p.Arg809_Val810delinsHisArg
NM_001354664.1:c.2418_2426delinsAAAACACCG	NP_001341593.1:p.Arg808_Val809delinsHisArg
XR_001740158.2:n.3209_3217delinsAAAACACCG
XR_001740159.2:n.3044_3052delinsAAAACACCG
XR_001741072.1:n.600+1660_600+1668delinsCGGTGTTTT
XR_001741074.1:n.475+3548_475+3556delinsCGGTGTTTT
XR_924835.2:n.600+1660_600+1668delinsCGGTGTTTT
NM_001354663.2:c.2421_2429delinsAAAACACCG	NP_001341592.1:p.Arg809_Val810delinsHisArg
NM_001354664.2:c.2418_2426delinsAAAACACCG	NP_001341593.1:p.Arg808_Val809delinsHisArg
NM_130831.3:c.2682_2690delinsAAAACACCG	NP_570844.1:p.Arg896_Val897delinsHisArg
NM_130832.3:c.2736_2744delinsAAAACACCG	NP_570845.1:p.Arg914_Val915delinsHisArg
NM_130834.3:c.2844_2852delinsAAAACACCG	NP_570847.2:p.Arg950_Val951delinsHisArg
NM_130836.3:c.2901_2909delinsAAAACACCG	NP_570849.2:p.Arg969_Val970delinsHisArg
NM_015560.3:c.2790_2798delinsAAAACACCG	NP_056375.2:p.Arg932_Val933delinsHisArg
NM_130833.3:c.2793_2801delinsAAAACACCG	NP_570846.1:p.Arg933_Val934delinsHisArg
NM_130835.3:c.2847_2855delinsAAAACACCG	NP_570848.1:p.Arg951_Val952delinsHisArg
NM_130837.3:c.2955_2963delinsAAAACACCG MANE Select	NP_570850.2:p.Arg987_Val988delinsHisArg