Canonical Allele Identifier: CA2586973433

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642771_193642772del , CM000665.2:g.193642771_193642772del	GRCh38
NC_000003.11:g.193360560_193360561del , CM000665.1:g.193360560_193360561del	GRCh37
NC_000003.10:g.194843254_194843255del	NCBI36
NG_011605.1:g.54628_54629del , LRG_337:g.54628_54629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1156_1157del MANE Select	ENSP00000355324.2:p.Leu386GlufsTer2
ENST00000361828.7:c.991_992del	ENSP00000354429.3:p.Leu331GlufsTer2
ENST00000361908.8:c.1102_1103del	ENSP00000354681.3:p.Leu368GlufsTer2
ENST00000392436.7:c.991_992del	ENSP00000376231.3:p.Leu331GlufsTer2
ENST00000392437.6:c.1045_1046del	ENSP00000376232.2:p.Leu349GlufsTer2
ENST00000642289.1:c.1080-602_1080-601del
ENST00000642445.1:c.991_992del	ENSP00000495535.1:p.Leu331GlufsTer2
ENST00000642593.1:c.991_992del	ENSP00000494273.1:p.Leu331GlufsTer2
ENST00000643329.1:c.673_674del	ENSP00000493673.1:p.Leu225GlufsTer2
ENST00000643737.1:c.*1072_*1073del	ENSP00000494210.1:n.*1072_*1073del
ENST00000644595.1:c.991_992del	ENSP00000494121.1:p.Leu331GlufsTer2
ENST00000644629.1:c.651_652del
ENST00000644841.1:c.619_620del	ENSP00000493988.1:p.Leu207GlufsTer2
ENST00000644959.1:c.960_961del
ENST00000645553.1:c.1006_1007del	ENSP00000494725.1:p.Leu336GlufsTer2
ENST00000646085.1:c.*469_*470del	ENSP00000494509.1:n.*469_*470del
ENST00000646277.1:c.1156_1157del	ENSP00000495289.1:p.Leu386GlufsTer2
ENST00000646544.1:c.54_55del
ENST00000646699.1:c.1080-602_1080-601del
ENST00000646793.1:c.883_884del	ENSP00000494512.1:p.Leu295GlufsTer2
ENST00000361150.6:c.994_995del	ENSP00000354781.2:p.Leu332GlufsTer2
ENST00000361510.6:c.1156_1157del	ENSP00000355324.2:p.Leu386GlufsTer2
ENST00000361715.6:c.1048_1049del	ENSP00000355311.2:p.Leu350GlufsTer2
ENST00000361828.6:c.1045_1046del	ENSP00000354429.2:p.Leu349GlufsTer2
ENST00000361908.7:c.1102_1103del	ENSP00000354681.3:p.Leu368GlufsTer2
ENST00000392438.7:c.991_992del	ENSP00000376233.3:p.Leu331GlufsTer2
ENST00000475899.1:n.187_188del
ENST00000497189.5:n.477_478del
NM_015560.2:c.991_992del , LRG_337t1:c.991_992del	NP_056375.2:p.Leu331GlufsTer2
NM_130831.2:c.883_884del	NP_570844.1:p.Leu295GlufsTer2
NM_130832.2:c.937_938del	NP_570845.1:p.Leu313GlufsTer2
NM_130833.2:c.994_995del	NP_570846.1:p.Leu332GlufsTer2
NM_130834.2:c.1045_1046del	NP_570847.2:p.Leu349GlufsTer2
NM_130835.2:c.1048_1049del	NP_570848.1:p.Leu350GlufsTer2
NM_130836.2:c.1102_1103del	NP_570849.2:p.Leu368GlufsTer2
NM_130837.2:c.1156_1157del , LRG_337t2:c.1156_1157del	NP_570850.2:p.Leu386GlufsTer2
XM_011512863.1:c.1156_1157del	XP_011511165.1:p.Leu386GlufsTer2
XM_011512864.1:c.1102_1103del	XP_011511166.1:p.Leu368GlufsTer2
XM_011512865.1:c.1045_1046del	XP_011511167.1:p.Leu349GlufsTer2
XM_011512866.1:c.994_995del	XP_011511168.1:p.Leu332GlufsTer2
XM_011512867.1:c.991_992del	XP_011511169.1:p.Leu331GlufsTer2
XM_011512868.1:c.883_884del	XP_011511170.1:p.Leu295GlufsTer2
XM_011512869.1:c.1156_1157del	XP_011511171.1:p.Leu386GlufsTer2
NM_001354663.1:c.622_623del	NP_001341592.1:p.Leu208GlufsTer2
NM_001354664.1:c.619_620del	NP_001341593.1:p.Leu207GlufsTer2
XR_001740158.2:n.1385_1386del
XR_001740159.2:n.1220_1221del
NM_001354663.2:c.622_623del	NP_001341592.1:p.Leu208GlufsTer2
NM_001354664.2:c.619_620del	NP_001341593.1:p.Leu207GlufsTer2
NM_130831.3:c.883_884del	NP_570844.1:p.Leu295GlufsTer2
NM_130832.3:c.937_938del	NP_570845.1:p.Leu313GlufsTer2
NM_130834.3:c.1045_1046del	NP_570847.2:p.Leu349GlufsTer2
NM_130836.3:c.1102_1103del	NP_570849.2:p.Leu368GlufsTer2
NM_015560.3:c.991_992del	NP_056375.2:p.Leu331GlufsTer2
NM_130833.3:c.994_995del	NP_570846.1:p.Leu332GlufsTer2
NM_130835.3:c.1048_1049del	NP_570848.1:p.Leu350GlufsTer2
NM_130837.3:c.1156_1157del MANE Select	NP_570850.2:p.Leu386GlufsTer2