Canonical Allele Identifier: CA2577995010

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642830del , CM000665.2:g.193642830del	GRCh38
NC_000003.11:g.193360619del , CM000665.1:g.193360619del	GRCh37
NC_000003.10:g.194843313del	NCBI36
NG_011605.1:g.54687del , LRG_337:g.54687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1215del MANE Select	ENSP00000355324.2:p.Thr406ProfsTer9
ENST00000361828.7:c.1050del	ENSP00000354429.3:p.Thr351ProfsTer9
ENST00000361908.8:c.1161del	ENSP00000354681.3:p.Thr388ProfsTer9
ENST00000392436.7:c.1050del	ENSP00000376231.3:p.Thr351ProfsTer9
ENST00000392437.6:c.1104del	ENSP00000376232.2:p.Thr369ProfsTer9
ENST00000642289.1:c.1080-543del
ENST00000642445.1:c.1050del	ENSP00000495535.1:p.Thr351ProfsTer9
ENST00000642593.1:c.1050del	ENSP00000494273.1:p.Thr351ProfsTer9
ENST00000643329.1:c.732del	ENSP00000493673.1:p.Thr245ProfsTer9
ENST00000643737.1:c.*1131del	ENSP00000494210.1:n.*1131del
ENST00000644595.1:c.1050del	ENSP00000494121.1:p.Thr351ProfsTer9
ENST00000644629.1:c.710del
ENST00000644841.1:c.678del	ENSP00000493988.1:p.Thr227ProfsTer9
ENST00000644959.1:c.1019del
ENST00000645553.1:c.1065del	ENSP00000494725.1:p.Thr356ProfsTer9
ENST00000646085.1:c.*528del	ENSP00000494509.1:n.*528del
ENST00000646277.1:c.1215del	ENSP00000495289.1:p.Thr406ProfsTer9
ENST00000646544.1:c.113del
ENST00000646699.1:c.1080-543del
ENST00000646793.1:c.942del	ENSP00000494512.1:p.Thr315ProfsTer9
ENST00000361150.6:c.1053del	ENSP00000354781.2:p.Thr352ProfsTer9
ENST00000361510.6:c.1215del	ENSP00000355324.2:p.Thr406ProfsTer9
ENST00000361715.6:c.1107del	ENSP00000355311.2:p.Thr370ProfsTer9
ENST00000361828.6:c.1104del	ENSP00000354429.2:p.Thr369ProfsTer9
ENST00000361908.7:c.1161del	ENSP00000354681.3:p.Thr388ProfsTer9
ENST00000392438.7:c.1050del	ENSP00000376233.3:p.Thr351ProfsTer9
ENST00000475899.1:n.246del
ENST00000497189.5:n.536del
NM_015560.2:c.1050del , LRG_337t1:c.1050del	NP_056375.2:p.Thr351ProfsTer9
NM_130831.2:c.942del	NP_570844.1:p.Thr315ProfsTer9
NM_130832.2:c.996del	NP_570845.1:p.Thr333ProfsTer9
NM_130833.2:c.1053del	NP_570846.1:p.Thr352ProfsTer9
NM_130834.2:c.1104del	NP_570847.2:p.Thr369ProfsTer9
NM_130835.2:c.1107del	NP_570848.1:p.Thr370ProfsTer9
NM_130836.2:c.1161del	NP_570849.2:p.Thr388ProfsTer9
NM_130837.2:c.1215del , LRG_337t2:c.1215del	NP_570850.2:p.Thr406ProfsTer9
XM_011512863.1:c.1215del	XP_011511165.1:p.Thr406ProfsTer9
XM_011512864.1:c.1161del	XP_011511166.1:p.Thr388ProfsTer9
XM_011512865.1:c.1104del	XP_011511167.1:p.Thr369ProfsTer9
XM_011512866.1:c.1053del	XP_011511168.1:p.Thr352ProfsTer9
XM_011512867.1:c.1050del	XP_011511169.1:p.Thr351ProfsTer9
XM_011512868.1:c.942del	XP_011511170.1:p.Thr315ProfsTer9
XM_011512869.1:c.1215del	XP_011511171.1:p.Thr406ProfsTer9
NM_001354663.1:c.681del	NP_001341592.1:p.Thr228ProfsTer9
NM_001354664.1:c.678del	NP_001341593.1:p.Thr227ProfsTer9
XR_001740158.2:n.1444del
XR_001740159.2:n.1279del
NM_001354663.2:c.681del	NP_001341592.1:p.Thr228ProfsTer9
NM_001354664.2:c.678del	NP_001341593.1:p.Thr227ProfsTer9
NM_130831.3:c.942del	NP_570844.1:p.Thr315ProfsTer9
NM_130832.3:c.996del	NP_570845.1:p.Thr333ProfsTer9
NM_130834.3:c.1104del	NP_570847.2:p.Thr369ProfsTer9
NM_130836.3:c.1161del	NP_570849.2:p.Thr388ProfsTer9
NM_015560.3:c.1050del	NP_056375.2:p.Thr351ProfsTer9
NM_130833.3:c.1053del	NP_570846.1:p.Thr352ProfsTer9
NM_130835.3:c.1107del	NP_570848.1:p.Thr370ProfsTer9
NM_130837.3:c.1215del MANE Select	NP_570850.2:p.Thr406ProfsTer9