Canonical Allele Identifier: CA1430243813
Gene: OPA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193642900_193642905delinsTATAAA , CM000665.2:g.193642900_193642905delinsTATAAA GRCh38
NC_000003.11:g.193360689_193360694delinsTATAAA , CM000665.1:g.193360689_193360694delinsTATAAA GRCh37
NC_000003.10:g.194843383_194843388delinsTATAAA NCBI36
NG_011605.1:g.54757_54762delinsTATAAA , LRG_337:g.54757_54762delinsTATAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1230+55_1230+60delinsTATAAA MANE Select ENSP00000355324.2:n.1230+55_1230+60delinsTATAAA
ENST00000361828.7:c.1065+55_1065+60delinsTATAAA ENSP00000354429.3:n.1065+55_1065+60delinsTATAAA
ENST00000361908.8:c.1176+55_1176+60delinsTATAAA ENSP00000354681.3:n.1176+55_1176+60delinsTATAAA
ENST00000392436.7:c.1065+55_1065+60delinsTATAAA ENSP00000376231.3:n.1065+55_1065+60delinsTATAAA
ENST00000392437.6:c.1119+55_1119+60delinsTATAAA ENSP00000376232.2:n.1119+55_1119+60delinsTATAAA
ENST00000642289.1:c.1080-473_1080-468delinsTATAAA
ENST00000642445.1:c.1065+55_1065+60delinsTATAAA ENSP00000495535.1:n.1065+55_1065+60delinsTATAAA
ENST00000642593.1:c.1065+55_1065+60delinsTATAAA ENSP00000494273.1:n.1065+55_1065+60delinsTATAAA
ENST00000643329.1:c.747+55_747+60delinsTATAAA ENSP00000493673.1:n.747+55_747+60delinsTATAAA
ENST00000643737.1:c.*1146+55_*1146+60delinsTATAAA ENSP00000494210.1:n.*1146+55_*1146+60delinsTATAAA
ENST00000644595.1:c.1065+55_1065+60delinsTATAAA ENSP00000494121.1:n.1065+55_1065+60delinsTATAAA
ENST00000644629.1:c.725+55_725+60delinsTATAAA
ENST00000644841.1:c.693+55_693+60delinsTATAAA ENSP00000493988.1:n.693+55_693+60delinsTATAAA
ENST00000644959.1:c.1034+55_1034+60delinsTATAAA
ENST00000645553.1:c.1080+55_1080+60delinsTATAAA ENSP00000494725.1:n.1080+55_1080+60delinsTATAAA
ENST00000646085.1:c.*543+55_*543+60delinsTATAAA ENSP00000494509.1:n.*543+55_*543+60delinsTATAAA
ENST00000646277.1:c.1230+55_1230+60delinsTATAAA ENSP00000495289.1:n.1230+55_1230+60delinsTATAAA
ENST00000646544.1:c.128+55_128+60delinsTATAAA
ENST00000646699.1:c.1080-473_1080-468delinsTATAAA
ENST00000646793.1:c.957+55_957+60delinsTATAAA ENSP00000494512.1:n.957+55_957+60delinsTATAAA
ENST00000361150.6:c.1068+55_1068+60delinsTATAAA ENSP00000354781.2:n.1068+55_1068+60delinsTATAAA
ENST00000361510.6:c.1230+55_1230+60delinsTATAAA ENSP00000355324.2:n.1230+55_1230+60delinsTATAAA
ENST00000361715.6:c.1122+55_1122+60delinsTATAAA ENSP00000355311.2:n.1122+55_1122+60delinsTATAAA
ENST00000361828.6:c.1119+55_1119+60delinsTATAAA ENSP00000354429.2:n.1119+55_1119+60delinsTATAAA
ENST00000361908.7:c.1176+55_1176+60delinsTATAAA ENSP00000354681.3:n.1176+55_1176+60delinsTATAAA
ENST00000392438.7:c.1065+55_1065+60delinsTATAAA ENSP00000376233.3:n.1065+55_1065+60delinsTATAAA
ENST00000475899.1:n.261+55_261+60delinsTATAAA
ENST00000497189.5:n.551+55_551+60delinsTATAAA
NM_015560.2:c.1065+55_1065+60delinsTATAAA , LRG_337t1:c.1065+55_1065+60delinsTATAAA NP_056375.2:n.1065+55_1065+60delinsTATAAA
NM_130831.2:c.957+55_957+60delinsTATAAA NP_570844.1:n.957+55_957+60delinsTATAAA
NM_130832.2:c.1011+55_1011+60delinsTATAAA NP_570845.1:n.1011+55_1011+60delinsTATAAA
NM_130833.2:c.1068+55_1068+60delinsTATAAA NP_570846.1:n.1068+55_1068+60delinsTATAAA
NM_130834.2:c.1119+55_1119+60delinsTATAAA NP_570847.2:n.1119+55_1119+60delinsTATAAA
NM_130835.2:c.1122+55_1122+60delinsTATAAA NP_570848.1:n.1122+55_1122+60delinsTATAAA
NM_130836.2:c.1176+55_1176+60delinsTATAAA NP_570849.2:n.1176+55_1176+60delinsTATAAA
NM_130837.2:c.1230+55_1230+60delinsTATAAA , LRG_337t2:c.1230+55_1230+60delinsTATAAA NP_570850.2:n.1230+55_1230+60delinsTATAAA
XM_011512863.1:c.1230+55_1230+60delinsTATAAA XP_011511165.1:n.1230+55_1230+60delinsTATAAA
XM_011512864.1:c.1176+55_1176+60delinsTATAAA XP_011511166.1:n.1176+55_1176+60delinsTATAAA
XM_011512865.1:c.1119+55_1119+60delinsTATAAA XP_011511167.1:n.1119+55_1119+60delinsTATAAA
XM_011512866.1:c.1068+55_1068+60delinsTATAAA XP_011511168.1:n.1068+55_1068+60delinsTATAAA
XM_011512867.1:c.1065+55_1065+60delinsTATAAA XP_011511169.1:n.1065+55_1065+60delinsTATAAA
XM_011512868.1:c.957+55_957+60delinsTATAAA XP_011511170.1:n.957+55_957+60delinsTATAAA
XM_011512869.1:c.1230+55_1230+60delinsTATAAA XP_011511171.1:n.1230+55_1230+60delinsTATAAA
NM_001354663.1:c.696+55_696+60delinsTATAAA NP_001341592.1:n.696+55_696+60delinsTATAAA
NM_001354664.1:c.693+55_693+60delinsTATAAA NP_001341593.1:n.693+55_693+60delinsTATAAA
XR_001740158.2:n.1459+55_1459+60delinsTATAAA
XR_001740159.2:n.1294+55_1294+60delinsTATAAA
NM_001354663.2:c.696+55_696+60delinsTATAAA NP_001341592.1:n.696+55_696+60delinsTATAAA
NM_001354664.2:c.693+55_693+60delinsTATAAA NP_001341593.1:n.693+55_693+60delinsTATAAA
NM_130831.3:c.957+55_957+60delinsTATAAA NP_570844.1:n.957+55_957+60delinsTATAAA
NM_130832.3:c.1011+55_1011+60delinsTATAAA NP_570845.1:n.1011+55_1011+60delinsTATAAA
NM_130834.3:c.1119+55_1119+60delinsTATAAA NP_570847.2:n.1119+55_1119+60delinsTATAAA
NM_130836.3:c.1176+55_1176+60delinsTATAAA NP_570849.2:n.1176+55_1176+60delinsTATAAA
NM_015560.3:c.1065+55_1065+60delinsTATAAA NP_056375.2:n.1065+55_1065+60delinsTATAAA
NM_130833.3:c.1068+55_1068+60delinsTATAAA NP_570846.1:n.1068+55_1068+60delinsTATAAA
NM_130835.3:c.1122+55_1122+60delinsTATAAA NP_570848.1:n.1122+55_1122+60delinsTATAAA
NM_130837.3:c.1230+55_1230+60delinsTATAAA MANE Select NP_570850.2:n.1230+55_1230+60delinsTATAAA
Search 100 bp 5'
Search 100 bp 3'