Canonical Allele Identifier: CA10575493
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193692092_193692093del , CM000665.2:g.193692092_193692093del GRCh38
NC_000003.11:g.193409881_193409882del , CM000665.1:g.193409881_193409882del GRCh37
NC_000003.10:g.194892575_194892576del NCBI36
NG_011605.1:g.103949_103950del , LRG_337:g.103949_103950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.3013_3014del MANE Select ENSP00000355324.2:p.Asp1005CysfsTer4
ENST00000361828.7:c.2848_2849del ENSP00000354429.3:p.Asp950CysfsTer4
ENST00000361908.8:c.2959_2960del ENSP00000354681.3:p.Asp987CysfsTer4
ENST00000392437.6:c.2902_2903del ENSP00000376232.2:p.Asp968CysfsTer4
ENST00000642289.1:c.2787_2788del
ENST00000642445.1:c.*99_*100del ENSP00000495535.1:n.*99_*100del
ENST00000642593.1:c.*1073_*1074del ENSP00000494273.1:n.*1073_*1074del
ENST00000643329.1:c.2530_2531del ENSP00000493673.1:p.Asp844CysfsTer4
ENST00000643737.1:c.*2929_*2930del ENSP00000494210.1:n.*2929_*2930del
ENST00000644595.1:c.*58_*59del ENSP00000494121.1:n.*58_*59del
ENST00000644629.1:c.2435_2436del
ENST00000644841.1:c.*1332_*1333del ENSP00000493988.1:n.*1332_*1333del
ENST00000644959.1:c.2842_2843del
ENST00000645553.1:c.2863_2864del ENSP00000494725.1:p.Asp955CysfsTer4
ENST00000646085.1:c.*2326_*2327del ENSP00000494509.1:n.*2326_*2327del
ENST00000646277.1:c.*1449_*1450del ENSP00000495289.1:n.*1449_*1450del
ENST00000646544.1:c.1836_1837del
ENST00000646699.1:c.2787_2788del
ENST00000646793.1:c.2740_2741del ENSP00000494512.1:p.Asp914CysfsTer4
ENST00000361150.6:c.2851_2852del ENSP00000354781.2:p.Asp951CysfsTer4
ENST00000361510.6:c.3013_3014del ENSP00000355324.2:p.Asp1005CysfsTer4
ENST00000361715.6:c.2905_2906del ENSP00000355311.2:p.Asp969CysfsTer4
ENST00000361828.6:c.2902_2903del ENSP00000354429.2:p.Asp968CysfsTer4
ENST00000361908.7:c.2959_2960del ENSP00000354681.3:p.Asp987CysfsTer4
ENST00000392438.7:c.2848_2849del ENSP00000376233.3:p.Asp950CysfsTer4
ENST00000495261.1:n.699_700del
NM_015560.2:c.2848_2849del , LRG_337t1:c.2848_2849del NP_056375.2:p.Asp950CysfsTer4
NM_130831.2:c.2740_2741del NP_570844.1:p.Asp914CysfsTer4
NM_130832.2:c.2794_2795del NP_570845.1:p.Asp932CysfsTer4
NM_130833.2:c.2851_2852del NP_570846.1:p.Asp951CysfsTer4
NM_130834.2:c.2902_2903del NP_570847.2:p.Asp968CysfsTer4
NM_130835.2:c.2905_2906del NP_570848.1:p.Asp969CysfsTer4
NM_130836.2:c.2959_2960del NP_570849.2:p.Asp987CysfsTer4
NM_130837.2:c.3013_3014del , LRG_337t2:c.3013_3014del NP_570850.2:p.Asp1005CysfsTer4
NM_001354663.1:c.2479_2480del NP_001341592.1:p.Asp827CysfsTer4
NM_001354664.1:c.2476_2477del NP_001341593.1:p.Asp826CysfsTer4
XR_001740158.2:n.3267_3268del
XR_001740159.2:n.3102_3103del
NM_001354663.2:c.2479_2480del NP_001341592.1:p.Asp827CysfsTer4
NM_001354664.2:c.2476_2477del NP_001341593.1:p.Asp826CysfsTer4
NM_130831.3:c.2740_2741del NP_570844.1:p.Asp914CysfsTer4
NM_130832.3:c.2794_2795del NP_570845.1:p.Asp932CysfsTer4
NM_130834.3:c.2902_2903del NP_570847.2:p.Asp968CysfsTer4
NM_130836.3:c.2959_2960del NP_570849.2:p.Asp987CysfsTer4
NM_015560.3:c.2848_2849del NP_056375.2:p.Asp950CysfsTer4
NM_130833.3:c.2851_2852del NP_570846.1:p.Asp951CysfsTer4
NM_130835.3:c.2905_2906del NP_570848.1:p.Asp969CysfsTer4
NM_130837.3:c.3013_3014del MANE Select NP_570850.2:p.Asp1005CysfsTer4