Canonical Allele Identifier: CA2759937911

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643246_193643248del , CM000665.2:g.193643246_193643248del	GRCh38
NC_000003.11:g.193361035_193361037del , CM000665.1:g.193361035_193361037del	GRCh37
NC_000003.10:g.194843729_194843731del	NCBI36
NG_011605.1:g.55103_55105del , LRG_337:g.55103_55105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1306-127_1306-125del MANE Select	ENSP00000355324.2:n.1306-127_1306-125del
ENST00000361828.7:c.1141-127_1141-125del	ENSP00000354429.3:n.1141-127_1141-125del
ENST00000361908.8:c.1252-127_1252-125del	ENSP00000354681.3:n.1252-127_1252-125del
ENST00000392436.7:c.1141-127_1141-125del	ENSP00000376231.3:n.1141-127_1141-125del
ENST00000392437.6:c.1195-127_1195-125del	ENSP00000376232.2:n.1195-127_1195-125del
ENST00000642289.1:c.1080-127_1080-125del
ENST00000642445.1:c.1141-127_1141-125del	ENSP00000495535.1:n.1141-127_1141-125del
ENST00000642593.1:c.1141-127_1141-125del	ENSP00000494273.1:n.1141-127_1141-125del
ENST00000643329.1:c.823-127_823-125del	ENSP00000493673.1:n.823-127_823-125del
ENST00000643737.1:c.*1222-127_*1222-125del	ENSP00000494210.1:n.*1222-127_*1222-125del
ENST00000644595.1:c.1141-127_1141-125del	ENSP00000494121.1:n.1141-127_1141-125del
ENST00000644629.1:c.801-127_801-125del
ENST00000644841.1:c.769-127_769-125del	ENSP00000493988.1:n.769-127_769-125del
ENST00000644959.1:c.1110-127_1110-125del
ENST00000645553.1:c.1156-127_1156-125del	ENSP00000494725.1:n.1156-127_1156-125del
ENST00000646085.1:c.*619-127_*619-125del	ENSP00000494509.1:n.*619-127_*619-125del
ENST00000646277.1:c.1306-127_1306-125del	ENSP00000495289.1:n.1306-127_1306-125del
ENST00000646544.1:c.129-127_129-125del
ENST00000646699.1:c.1080-127_1080-125del
ENST00000646793.1:c.1033-127_1033-125del	ENSP00000494512.1:n.1033-127_1033-125del
ENST00000361150.6:c.1144-127_1144-125del	ENSP00000354781.2:n.1144-127_1144-125del
ENST00000361510.6:c.1306-127_1306-125del	ENSP00000355324.2:n.1306-127_1306-125del
ENST00000361715.6:c.1198-127_1198-125del	ENSP00000355311.2:n.1198-127_1198-125del
ENST00000361828.6:c.1195-127_1195-125del	ENSP00000354429.2:n.1195-127_1195-125del
ENST00000361908.7:c.1252-127_1252-125del	ENSP00000354681.3:n.1252-127_1252-125del
ENST00000392438.7:c.1141-127_1141-125del	ENSP00000376233.3:n.1141-127_1141-125del
ENST00000475899.1:n.337-127_337-125del
NM_015560.2:c.1141-127_1141-125del , LRG_337t1:c.1141-127_1141-125del	NP_056375.2:n.1141-127_1141-125del
NM_130831.2:c.1033-127_1033-125del	NP_570844.1:n.1033-127_1033-125del
NM_130832.2:c.1087-127_1087-125del	NP_570845.1:n.1087-127_1087-125del
NM_130833.2:c.1144-127_1144-125del	NP_570846.1:n.1144-127_1144-125del
NM_130834.2:c.1195-127_1195-125del	NP_570847.2:n.1195-127_1195-125del
NM_130835.2:c.1198-127_1198-125del	NP_570848.1:n.1198-127_1198-125del
NM_130836.2:c.1252-127_1252-125del	NP_570849.2:n.1252-127_1252-125del
NM_130837.2:c.1306-127_1306-125del , LRG_337t2:c.1306-127_1306-125del	NP_570850.2:n.1306-127_1306-125del
XM_011512863.1:c.1306-127_1306-125del	XP_011511165.1:n.1306-127_1306-125del
XM_011512864.1:c.1252-127_1252-125del	XP_011511166.1:n.1252-127_1252-125del
XM_011512865.1:c.1195-127_1195-125del	XP_011511167.1:n.1195-127_1195-125del
XM_011512866.1:c.1144-127_1144-125del	XP_011511168.1:n.1144-127_1144-125del
XM_011512867.1:c.1141-127_1141-125del	XP_011511169.1:n.1141-127_1141-125del
XM_011512868.1:c.1033-127_1033-125del	XP_011511170.1:n.1033-127_1033-125del
XM_011512869.1:c.1306-127_1306-125del	XP_011511171.1:n.1306-127_1306-125del
NM_001354663.1:c.772-127_772-125del	NP_001341592.1:n.772-127_772-125del
NM_001354664.1:c.769-127_769-125del	NP_001341593.1:n.769-127_769-125del
XR_001740158.2:n.1535-127_1535-125del
XR_001740159.2:n.1370-127_1370-125del
NM_001354663.2:c.772-127_772-125del	NP_001341592.1:n.772-127_772-125del
NM_001354664.2:c.769-127_769-125del	NP_001341593.1:n.769-127_769-125del
NM_130831.3:c.1033-127_1033-125del	NP_570844.1:n.1033-127_1033-125del
NM_130832.3:c.1087-127_1087-125del	NP_570845.1:n.1087-127_1087-125del
NM_130834.3:c.1195-127_1195-125del	NP_570847.2:n.1195-127_1195-125del
NM_130836.3:c.1252-127_1252-125del	NP_570849.2:n.1252-127_1252-125del
NM_015560.3:c.1141-127_1141-125del	NP_056375.2:n.1141-127_1141-125del
NM_130833.3:c.1144-127_1144-125del	NP_570846.1:n.1144-127_1144-125del
NM_130835.3:c.1198-127_1198-125del	NP_570848.1:n.1198-127_1198-125del
NM_130837.3:c.1306-127_1306-125del MANE Select	NP_570850.2:n.1306-127_1306-125del