Canonical Allele Identifier: CA2586973432

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642769_193642774del , CM000665.2:g.193642769_193642774del	GRCh38
NC_000003.11:g.193360558_193360563del , CM000665.1:g.193360558_193360563del	GRCh37
NC_000003.10:g.194843252_194843257del	NCBI36
NG_011605.1:g.54626_54631del , LRG_337:g.54626_54631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1154_1159del MANE Select	ENSP00000355324.2:p.Thr385_Leu386del
ENST00000361828.7:c.989_994del	ENSP00000354429.3:p.Thr330_Leu331del
ENST00000361908.8:c.1100_1105del	ENSP00000354681.3:p.Thr367_Leu368del
ENST00000392436.7:c.989_994del	ENSP00000376231.3:p.Thr330_Leu331del
ENST00000392437.6:c.1043_1048del	ENSP00000376232.2:p.Thr348_Leu349del
ENST00000642289.1:c.1080-604_1080-599del
ENST00000642445.1:c.989_994del	ENSP00000495535.1:p.Thr330_Leu331del
ENST00000642593.1:c.989_994del	ENSP00000494273.1:p.Thr330_Leu331del
ENST00000643329.1:c.671_676del	ENSP00000493673.1:p.Thr224_Leu225del
ENST00000643737.1:c.*1070_*1075del	ENSP00000494210.1:n.*1070_*1075del
ENST00000644595.1:c.989_994del	ENSP00000494121.1:p.Thr330_Leu331del
ENST00000644629.1:c.649_654del
ENST00000644841.1:c.617_622del	ENSP00000493988.1:p.Thr206_Leu207del
ENST00000644959.1:c.958_963del
ENST00000645553.1:c.1004_1009del	ENSP00000494725.1:p.Thr335_Leu336del
ENST00000646085.1:c.*467_*472del	ENSP00000494509.1:n.*467_*472del
ENST00000646277.1:c.1154_1159del	ENSP00000495289.1:p.Thr385_Leu386del
ENST00000646544.1:c.52_57del
ENST00000646699.1:c.1080-604_1080-599del
ENST00000646793.1:c.881_886del	ENSP00000494512.1:p.Thr294_Leu295del
ENST00000361150.6:c.992_997del	ENSP00000354781.2:p.Thr331_Leu332del
ENST00000361510.6:c.1154_1159del	ENSP00000355324.2:p.Thr385_Leu386del
ENST00000361715.6:c.1046_1051del	ENSP00000355311.2:p.Thr349_Leu350del
ENST00000361828.6:c.1043_1048del	ENSP00000354429.2:p.Thr348_Leu349del
ENST00000361908.7:c.1100_1105del	ENSP00000354681.3:p.Thr367_Leu368del
ENST00000392438.7:c.989_994del	ENSP00000376233.3:p.Thr330_Leu331del
ENST00000475899.1:n.185_190del
ENST00000497189.5:n.475_480del
NM_015560.2:c.989_994del , LRG_337t1:c.989_994del	NP_056375.2:p.Thr330_Leu331del
NM_130831.2:c.881_886del	NP_570844.1:p.Thr294_Leu295del
NM_130832.2:c.935_940del	NP_570845.1:p.Thr312_Leu313del
NM_130833.2:c.992_997del	NP_570846.1:p.Thr331_Leu332del
NM_130834.2:c.1043_1048del	NP_570847.2:p.Thr348_Leu349del
NM_130835.2:c.1046_1051del	NP_570848.1:p.Thr349_Leu350del
NM_130836.2:c.1100_1105del	NP_570849.2:p.Thr367_Leu368del
NM_130837.2:c.1154_1159del , LRG_337t2:c.1154_1159del	NP_570850.2:p.Thr385_Leu386del
XM_011512863.1:c.1154_1159del	XP_011511165.1:p.Thr385_Leu386del
XM_011512864.1:c.1100_1105del	XP_011511166.1:p.Thr367_Leu368del
XM_011512865.1:c.1043_1048del	XP_011511167.1:p.Thr348_Leu349del
XM_011512866.1:c.992_997del	XP_011511168.1:p.Thr331_Leu332del
XM_011512867.1:c.989_994del	XP_011511169.1:p.Thr330_Leu331del
XM_011512868.1:c.881_886del	XP_011511170.1:p.Thr294_Leu295del
XM_011512869.1:c.1154_1159del	XP_011511171.1:p.Thr385_Leu386del
NM_001354663.1:c.620_625del	NP_001341592.1:p.Thr207_Leu208del
NM_001354664.1:c.617_622del	NP_001341593.1:p.Thr206_Leu207del
XR_001740158.2:n.1383_1388del
XR_001740159.2:n.1218_1223del
NM_001354663.2:c.620_625del	NP_001341592.1:p.Thr207_Leu208del
NM_001354664.2:c.617_622del	NP_001341593.1:p.Thr206_Leu207del
NM_130831.3:c.881_886del	NP_570844.1:p.Thr294_Leu295del
NM_130832.3:c.935_940del	NP_570845.1:p.Thr312_Leu313del
NM_130834.3:c.1043_1048del	NP_570847.2:p.Thr348_Leu349del
NM_130836.3:c.1100_1105del	NP_570849.2:p.Thr367_Leu368del
NM_015560.3:c.989_994del	NP_056375.2:p.Thr330_Leu331del
NM_130833.3:c.992_997del	NP_570846.1:p.Thr331_Leu332del
NM_130835.3:c.1046_1051del	NP_570848.1:p.Thr349_Leu350del
NM_130837.3:c.1154_1159del MANE Select	NP_570850.2:p.Thr385_Leu386del