Canonical Allele Identifier: CA2568386672
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193667242_193667243insAACCTATATATATGGA , CM000665.2:g.193667242_193667243insAACCTATATATATGGA GRCh38
NC_000003.11:g.193385031_193385032insAACCTATATATATGGA , CM000665.1:g.193385031_193385032insAACCTATATATATGGA GRCh37
NC_000003.10:g.194867725_194867726insAACCTATATATATGGA NCBI36
NG_011605.1:g.79099_79100insAACCTATATATATGGA , LRG_337:g.79099_79100insAACCTATATATATGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2945_2946insAACCTATATATATGGA MANE Select ENSP00000355324.2:p.Leu983ThrfsTer9
ENST00000361828.7:c.2780_2781insAACCTATATATATGGA ENSP00000354429.3:p.Leu928ThrfsTer9
ENST00000361908.8:c.2891_2892insAACCTATATATATGGA ENSP00000354681.3:p.Leu965ThrfsTer9
ENST00000392436.7:c.2780_2781insAACCTATATATATGGA ENSP00000376231.3:p.Leu928ThrfsTer9
ENST00000392437.6:c.2834_2835insAACCTATATATATGGA ENSP00000376232.2:p.Leu946ThrfsTer9
ENST00000642289.1:c.2719_2720insAACCTATATATATGGA
ENST00000642445.1:c.2780_2781insAACCTATATATATGGA ENSP00000495535.1:p.Leu928ThrfsTer9
ENST00000642593.1:c.*1005_*1006insAACCTATATATATGGA ENSP00000494273.1:n.*1005_*1006insAACCTATATATATGGA
ENST00000643329.1:c.2462_2463insAACCTATATATATGGA ENSP00000493673.1:p.Leu822ThrfsTer9
ENST00000643737.1:c.*2861_*2862insAACCTATATATATGGA ENSP00000494210.1:n.*2861_*2862insAACCTATATATATGGA
ENST00000644595.1:c.2780_2781insAACCTATATATATGGA ENSP00000494121.1:p.Leu928ThrfsTer9
ENST00000644629.1:c.2367_2368insAACCTATATATATGGA
ENST00000644841.1:c.*1264_*1265insAACCTATATATATGGA ENSP00000493988.1:n.*1264_*1265insAACCTATATATATGGA
ENST00000644959.1:c.2774_2775insAACCTATATATATGGA
ENST00000645553.1:c.2795_2796insAACCTATATATATGGA ENSP00000494725.1:p.Leu933ThrfsTer9
ENST00000646085.1:c.*2258_*2259insAACCTATATATATGGA ENSP00000494509.1:n.*2258_*2259insAACCTATATATATGGA
ENST00000646277.1:c.*1381_*1382insAACCTATATATATGGA ENSP00000495289.1:n.*1381_*1382insAACCTATATATATGGA
ENST00000646544.1:c.1768_1769insAACCTATATATATGGA
ENST00000646699.1:c.2719_2720insAACCTATATATATGGA
ENST00000646793.1:c.2672_2673insAACCTATATATATGGA ENSP00000494512.1:p.Leu892ThrfsTer9
ENST00000361150.6:c.2783_2784insAACCTATATATATGGA ENSP00000354781.2:p.Leu929ThrfsTer9
ENST00000361510.6:c.2945_2946insAACCTATATATATGGA ENSP00000355324.2:p.Leu983ThrfsTer9
ENST00000361715.6:c.2837_2838insAACCTATATATATGGA ENSP00000355311.2:p.Leu947ThrfsTer9
ENST00000361828.6:c.2834_2835insAACCTATATATATGGA ENSP00000354429.2:p.Leu946ThrfsTer9
ENST00000361908.7:c.2891_2892insAACCTATATATATGGA ENSP00000354681.3:p.Leu965ThrfsTer9
ENST00000392438.7:c.2780_2781insAACCTATATATATGGA ENSP00000376233.3:p.Leu928ThrfsTer9
ENST00000429164.1:c.67_68insAACCTATATATATGGA
ENST00000445863.1:c.356_357insAACCTATATATATGGA ENSP00000398358.1:p.Leu120ThrfsTer9
NM_015560.2:c.2780_2781insAACCTATATATATGGA , LRG_337t1:c.2780_2781insAACCTATATATATGGA NP_056375.2:p.Leu928ThrfsTer9
NM_130831.2:c.2672_2673insAACCTATATATATGGA NP_570844.1:p.Leu892ThrfsTer9
NM_130832.2:c.2726_2727insAACCTATATATATGGA NP_570845.1:p.Leu910ThrfsTer9
NM_130833.2:c.2783_2784insAACCTATATATATGGA NP_570846.1:p.Leu929ThrfsTer9
NM_130834.2:c.2834_2835insAACCTATATATATGGA NP_570847.2:p.Leu946ThrfsTer9
NM_130835.2:c.2837_2838insAACCTATATATATGGA NP_570848.1:p.Leu947ThrfsTer9
NM_130836.2:c.2891_2892insAACCTATATATATGGA NP_570849.2:p.Leu965ThrfsTer9
NM_130837.2:c.2945_2946insAACCTATATATATGGA , LRG_337t2:c.2945_2946insAACCTATATATATGGA NP_570850.2:p.Leu983ThrfsTer9
XM_011512863.1:c.2945_2946insAACCTATATATATGGA XP_011511165.1:p.Leu983ThrfsTer9
XM_011512864.1:c.2891_2892insAACCTATATATATGGA XP_011511166.1:p.Leu965ThrfsTer9
XM_011512865.1:c.2834_2835insAACCTATATATATGGA XP_011511167.1:p.Leu946ThrfsTer9
XM_011512866.1:c.2783_2784insAACCTATATATATGGA XP_011511168.1:p.Leu929ThrfsTer9
XM_011512867.1:c.2780_2781insAACCTATATATATGGA XP_011511169.1:p.Leu928ThrfsTer9
XM_011512868.1:c.2672_2673insAACCTATATATATGGA XP_011511170.1:p.Leu892ThrfsTer9
XR_924835.1:n.582+1677_582+1678insTCCATATATATAGGTT
NM_001354663.1:c.2411_2412insAACCTATATATATGGA NP_001341592.1:p.Leu805ThrfsTer9
NM_001354664.1:c.2408_2409insAACCTATATATATGGA NP_001341593.1:p.Leu804ThrfsTer9
XR_001740158.2:n.3199_3200insAACCTATATATATGGA
XR_001740159.2:n.3034_3035insAACCTATATATATGGA
XR_001741072.1:n.600+1677_600+1678insTCCATATATATAGGTT
XR_001741074.1:n.475+3565_475+3566insTCCATATATATAGGTT
XR_924835.2:n.600+1677_600+1678insTCCATATATATAGGTT
NM_001354663.2:c.2411_2412insAACCTATATATATGGA NP_001341592.1:p.Leu805ThrfsTer9
NM_001354664.2:c.2408_2409insAACCTATATATATGGA NP_001341593.1:p.Leu804ThrfsTer9
NM_130831.3:c.2672_2673insAACCTATATATATGGA NP_570844.1:p.Leu892ThrfsTer9
NM_130832.3:c.2726_2727insAACCTATATATATGGA NP_570845.1:p.Leu910ThrfsTer9
NM_130834.3:c.2834_2835insAACCTATATATATGGA NP_570847.2:p.Leu946ThrfsTer9
NM_130836.3:c.2891_2892insAACCTATATATATGGA NP_570849.2:p.Leu965ThrfsTer9
NM_015560.3:c.2780_2781insAACCTATATATATGGA NP_056375.2:p.Leu928ThrfsTer9
NM_130833.3:c.2783_2784insAACCTATATATATGGA NP_570846.1:p.Leu929ThrfsTer9
NM_130835.3:c.2837_2838insAACCTATATATATGGA NP_570848.1:p.Leu947ThrfsTer9
NM_130837.3:c.2945_2946insAACCTATATATATGGA MANE Select NP_570850.2:p.Leu983ThrfsTer9