Canonical Allele Identifier: CA2759937790

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642802_193642803del , CM000665.2:g.193642802_193642803del	GRCh38
NC_000003.11:g.193360591_193360592del , CM000665.1:g.193360591_193360592del	GRCh37
NC_000003.10:g.194843285_194843286del	NCBI36
NG_011605.1:g.54659_54660del , LRG_337:g.54659_54660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1187_1188del MANE Select	ENSP00000355324.2:p.Phe396Ter
ENST00000361828.7:c.1022_1023del	ENSP00000354429.3:p.Phe341Ter
ENST00000361908.8:c.1133_1134del	ENSP00000354681.3:p.Phe378Ter
ENST00000392436.7:c.1022_1023del	ENSP00000376231.3:p.Phe341Ter
ENST00000392437.6:c.1076_1077del	ENSP00000376232.2:p.Phe359Ter
ENST00000642289.1:c.1080-571_1080-570del
ENST00000642445.1:c.1022_1023del	ENSP00000495535.1:p.Phe341Ter
ENST00000642593.1:c.1022_1023del	ENSP00000494273.1:p.Phe341Ter
ENST00000643329.1:c.704_705del	ENSP00000493673.1:p.Phe235Ter
ENST00000643737.1:c.*1103_*1104del	ENSP00000494210.1:n.*1103_*1104del
ENST00000644595.1:c.1022_1023del	ENSP00000494121.1:p.Phe341Ter
ENST00000644629.1:c.682_683del
ENST00000644841.1:c.650_651del	ENSP00000493988.1:p.Phe217Ter
ENST00000644959.1:c.991_992del
ENST00000645553.1:c.1037_1038del	ENSP00000494725.1:p.Phe346Ter
ENST00000646085.1:c.*500_*501del	ENSP00000494509.1:n.*500_*501del
ENST00000646277.1:c.1187_1188del	ENSP00000495289.1:p.Phe396Ter
ENST00000646544.1:c.85_86del
ENST00000646699.1:c.1080-571_1080-570del
ENST00000646793.1:c.914_915del	ENSP00000494512.1:p.Phe305Ter
ENST00000361150.6:c.1025_1026del	ENSP00000354781.2:p.Phe342Ter
ENST00000361510.6:c.1187_1188del	ENSP00000355324.2:p.Phe396Ter
ENST00000361715.6:c.1079_1080del	ENSP00000355311.2:p.Phe360Ter
ENST00000361828.6:c.1076_1077del	ENSP00000354429.2:p.Phe359Ter
ENST00000361908.7:c.1133_1134del	ENSP00000354681.3:p.Phe378Ter
ENST00000392438.7:c.1022_1023del	ENSP00000376233.3:p.Phe341Ter
ENST00000475899.1:n.218_219del
ENST00000497189.5:n.508_509del
NM_015560.2:c.1022_1023del , LRG_337t1:c.1022_1023del	NP_056375.2:p.Phe341Ter
NM_130831.2:c.914_915del	NP_570844.1:p.Phe305Ter
NM_130832.2:c.968_969del	NP_570845.1:p.Phe323Ter
NM_130833.2:c.1025_1026del	NP_570846.1:p.Phe342Ter
NM_130834.2:c.1076_1077del	NP_570847.2:p.Phe359Ter
NM_130835.2:c.1079_1080del	NP_570848.1:p.Phe360Ter
NM_130836.2:c.1133_1134del	NP_570849.2:p.Phe378Ter
NM_130837.2:c.1187_1188del , LRG_337t2:c.1187_1188del	NP_570850.2:p.Phe396Ter
XM_011512863.1:c.1187_1188del	XP_011511165.1:p.Phe396Ter
XM_011512864.1:c.1133_1134del	XP_011511166.1:p.Phe378Ter
XM_011512865.1:c.1076_1077del	XP_011511167.1:p.Phe359Ter
XM_011512866.1:c.1025_1026del	XP_011511168.1:p.Phe342Ter
XM_011512867.1:c.1022_1023del	XP_011511169.1:p.Phe341Ter
XM_011512868.1:c.914_915del	XP_011511170.1:p.Phe305Ter
XM_011512869.1:c.1187_1188del	XP_011511171.1:p.Phe396Ter
NM_001354663.1:c.653_654del	NP_001341592.1:p.Phe218Ter
NM_001354664.1:c.650_651del	NP_001341593.1:p.Phe217Ter
XR_001740158.2:n.1416_1417del
XR_001740159.2:n.1251_1252del
NM_001354663.2:c.653_654del	NP_001341592.1:p.Phe218Ter
NM_001354664.2:c.650_651del	NP_001341593.1:p.Phe217Ter
NM_130831.3:c.914_915del	NP_570844.1:p.Phe305Ter
NM_130832.3:c.968_969del	NP_570845.1:p.Phe323Ter
NM_130834.3:c.1076_1077del	NP_570847.2:p.Phe359Ter
NM_130836.3:c.1133_1134del	NP_570849.2:p.Phe378Ter
NM_015560.3:c.1022_1023del	NP_056375.2:p.Phe341Ter
NM_130833.3:c.1025_1026del	NP_570846.1:p.Phe342Ter
NM_130835.3:c.1079_1080del	NP_570848.1:p.Phe360Ter
NM_130837.3:c.1187_1188del MANE Select	NP_570850.2:p.Phe396Ter