Canonical Allele Identifier: CA2669104824
Gene: OPA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193667195del , CM000665.2:g.193667195del GRCh38
NC_000003.11:g.193384984del , CM000665.1:g.193384984del GRCh37
NC_000003.10:g.194867678del NCBI36
NG_011605.1:g.79052del , LRG_337:g.79052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2898del MANE Select ENSP00000355324.2:p.Glu967ArgfsTer?
ENST00000361828.7:c.2733del ENSP00000354429.3:p.Glu912ArgfsTer?
ENST00000361908.8:c.2844del ENSP00000354681.3:p.Glu949ArgfsTer?
ENST00000392436.7:c.2733del ENSP00000376231.3:p.Glu912ArgfsTer?
ENST00000392437.6:c.2787del ENSP00000376232.2:p.Glu930ArgfsTer?
ENST00000642289.1:c.2672del
ENST00000642445.1:c.2733del ENSP00000495535.1:p.Glu912ArgfsTer?
ENST00000642593.1:c.*958del ENSP00000494273.1:n.*958del
ENST00000643329.1:c.2415del ENSP00000493673.1:p.Glu806ArgfsTer?
ENST00000643737.1:c.*2814del ENSP00000494210.1:n.*2814del
ENST00000644595.1:c.2733del ENSP00000494121.1:p.Glu912ArgfsTer?
ENST00000644629.1:c.2320del
ENST00000644841.1:c.*1217del ENSP00000493988.1:n.*1217del
ENST00000644959.1:c.2727del
ENST00000645553.1:c.2748del ENSP00000494725.1:p.Glu917ArgfsTer?
ENST00000646085.1:c.*2211del ENSP00000494509.1:n.*2211del
ENST00000646277.1:c.*1334del ENSP00000495289.1:n.*1334del
ENST00000646544.1:c.1721del
ENST00000646699.1:c.2672del
ENST00000646793.1:c.2625del ENSP00000494512.1:p.Glu876ArgfsTer?
ENST00000361150.6:c.2736del ENSP00000354781.2:p.Glu913ArgfsTer?
ENST00000361510.6:c.2898del ENSP00000355324.2:p.Glu967ArgfsTer?
ENST00000361715.6:c.2790del ENSP00000355311.2:p.Glu931ArgfsTer?
ENST00000361828.6:c.2787del ENSP00000354429.2:p.Glu930ArgfsTer?
ENST00000361908.7:c.2844del ENSP00000354681.3:p.Glu949ArgfsTer?
ENST00000392438.7:c.2733del ENSP00000376233.3:p.Glu912ArgfsTer?
ENST00000429164.1:c.20del
ENST00000445863.1:c.309del ENSP00000398358.1:p.Glu104ArgfsTer?
NM_015560.2:c.2733del , LRG_337t1:c.2733del NP_056375.2:p.Glu912ArgfsTer?
NM_130831.2:c.2625del NP_570844.1:p.Glu876ArgfsTer?
NM_130832.2:c.2679del NP_570845.1:p.Glu894ArgfsTer?
NM_130833.2:c.2736del NP_570846.1:p.Glu913ArgfsTer?
NM_130834.2:c.2787del NP_570847.2:p.Glu930ArgfsTer?
NM_130835.2:c.2790del NP_570848.1:p.Glu931ArgfsTer?
NM_130836.2:c.2844del NP_570849.2:p.Glu949ArgfsTer?
NM_130837.2:c.2898del , LRG_337t2:c.2898del NP_570850.2:p.Glu967ArgfsTer?
XM_011512863.1:c.2898del XP_011511165.1:p.Glu967ArgfsTer29
XM_011512864.1:c.2844del XP_011511166.1:p.Glu949ArgfsTer29
XM_011512865.1:c.2787del XP_011511167.1:p.Glu930ArgfsTer29
XM_011512866.1:c.2736del XP_011511168.1:p.Glu913ArgfsTer29
XM_011512867.1:c.2733del XP_011511169.1:p.Glu912ArgfsTer29
XM_011512868.1:c.2625del XP_011511170.1:p.Glu876ArgfsTer29
XR_924835.1:n.582+1727del
NM_001354663.1:c.2364del NP_001341592.1:p.Glu789ArgfsTer?
NM_001354664.1:c.2361del NP_001341593.1:p.Glu788ArgfsTer?
XR_001740158.2:n.3152del
XR_001740159.2:n.2987del
XR_001741072.1:n.600+1727del
XR_001741074.1:n.475+3615del
XR_924835.2:n.600+1727del
NM_001354663.2:c.2364del NP_001341592.1:p.Glu789ArgfsTer?
NM_001354664.2:c.2361del NP_001341593.1:p.Glu788ArgfsTer?
NM_130831.3:c.2625del NP_570844.1:p.Glu876ArgfsTer?
NM_130832.3:c.2679del NP_570845.1:p.Glu894ArgfsTer?
NM_130834.3:c.2787del NP_570847.2:p.Glu930ArgfsTer?
NM_130836.3:c.2844del NP_570849.2:p.Glu949ArgfsTer?
NM_015560.3:c.2733del NP_056375.2:p.Glu912ArgfsTer?
NM_130833.3:c.2736del NP_570846.1:p.Glu913ArgfsTer?
NM_130835.3:c.2790del NP_570848.1:p.Glu931ArgfsTer?
NM_130837.3:c.2898del MANE Select NP_570850.2:p.Glu967ArgfsTer?