Canonical Allele Identifier: CA2759937809

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643125_193643126del , CM000665.2:g.193643125_193643126del	GRCh38
NC_000003.11:g.193360914_193360915del , CM000665.1:g.193360914_193360915del	GRCh37
NC_000003.10:g.194843608_194843609del	NCBI36
NG_011605.1:g.54982_54983del , LRG_337:g.54982_54983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1305+76_1305+77del MANE Select	ENSP00000355324.2:n.1305+76_1305+77del
ENST00000361828.7:c.1140+76_1140+77del	ENSP00000354429.3:n.1140+76_1140+77del
ENST00000361908.8:c.1251+76_1251+77del	ENSP00000354681.3:n.1251+76_1251+77del
ENST00000392436.7:c.1140+76_1140+77del	ENSP00000376231.3:n.1140+76_1140+77del
ENST00000392437.6:c.1194+76_1194+77del	ENSP00000376232.2:n.1194+76_1194+77del
ENST00000642289.1:c.1080-248_1080-247del
ENST00000642445.1:c.1140+76_1140+77del	ENSP00000495535.1:n.1140+76_1140+77del
ENST00000642593.1:c.1140+76_1140+77del	ENSP00000494273.1:n.1140+76_1140+77del
ENST00000643329.1:c.822+76_822+77del	ENSP00000493673.1:n.822+76_822+77del
ENST00000643737.1:c.*1221+76_*1221+77del	ENSP00000494210.1:n.*1221+76_*1221+77del
ENST00000644595.1:c.1140+76_1140+77del	ENSP00000494121.1:n.1140+76_1140+77del
ENST00000644629.1:c.800+76_800+77del
ENST00000644841.1:c.768+76_768+77del	ENSP00000493988.1:n.768+76_768+77del
ENST00000644959.1:c.1109+76_1109+77del
ENST00000645553.1:c.1155+76_1155+77del	ENSP00000494725.1:n.1155+76_1155+77del
ENST00000646085.1:c.*618+76_*618+77del	ENSP00000494509.1:n.*618+76_*618+77del
ENST00000646277.1:c.1305+76_1305+77del	ENSP00000495289.1:n.1305+76_1305+77del
ENST00000646544.1:c.129-248_129-247del
ENST00000646699.1:c.1080-248_1080-247del
ENST00000646793.1:c.1032+76_1032+77del	ENSP00000494512.1:n.1032+76_1032+77del
ENST00000361150.6:c.1143+76_1143+77del	ENSP00000354781.2:n.1143+76_1143+77del
ENST00000361510.6:c.1305+76_1305+77del	ENSP00000355324.2:n.1305+76_1305+77del
ENST00000361715.6:c.1197+76_1197+77del	ENSP00000355311.2:n.1197+76_1197+77del
ENST00000361828.6:c.1194+76_1194+77del	ENSP00000354429.2:n.1194+76_1194+77del
ENST00000361908.7:c.1251+76_1251+77del	ENSP00000354681.3:n.1251+76_1251+77del
ENST00000392438.7:c.1140+76_1140+77del	ENSP00000376233.3:n.1140+76_1140+77del
ENST00000475899.1:n.336+76_336+77del
NM_015560.2:c.1140+76_1140+77del , LRG_337t1:c.1140+76_1140+77del	NP_056375.2:n.1140+76_1140+77del
NM_130831.2:c.1032+76_1032+77del	NP_570844.1:n.1032+76_1032+77del
NM_130832.2:c.1086+76_1086+77del	NP_570845.1:n.1086+76_1086+77del
NM_130833.2:c.1143+76_1143+77del	NP_570846.1:n.1143+76_1143+77del
NM_130834.2:c.1194+76_1194+77del	NP_570847.2:n.1194+76_1194+77del
NM_130835.2:c.1197+76_1197+77del	NP_570848.1:n.1197+76_1197+77del
NM_130836.2:c.1251+76_1251+77del	NP_570849.2:n.1251+76_1251+77del
NM_130837.2:c.1305+76_1305+77del , LRG_337t2:c.1305+76_1305+77del	NP_570850.2:n.1305+76_1305+77del
XM_011512863.1:c.1305+76_1305+77del	XP_011511165.1:n.1305+76_1305+77del
XM_011512864.1:c.1251+76_1251+77del	XP_011511166.1:n.1251+76_1251+77del
XM_011512865.1:c.1194+76_1194+77del	XP_011511167.1:n.1194+76_1194+77del
XM_011512866.1:c.1143+76_1143+77del	XP_011511168.1:n.1143+76_1143+77del
XM_011512867.1:c.1140+76_1140+77del	XP_011511169.1:n.1140+76_1140+77del
XM_011512868.1:c.1032+76_1032+77del	XP_011511170.1:n.1032+76_1032+77del
XM_011512869.1:c.1305+76_1305+77del	XP_011511171.1:n.1305+76_1305+77del
NM_001354663.1:c.771+76_771+77del	NP_001341592.1:n.771+76_771+77del
NM_001354664.1:c.768+76_768+77del	NP_001341593.1:n.768+76_768+77del
XR_001740158.2:n.1534+76_1534+77del
XR_001740159.2:n.1369+76_1369+77del
NM_001354663.2:c.771+76_771+77del	NP_001341592.1:n.771+76_771+77del
NM_001354664.2:c.768+76_768+77del	NP_001341593.1:n.768+76_768+77del
NM_130831.3:c.1032+76_1032+77del	NP_570844.1:n.1032+76_1032+77del
NM_130832.3:c.1086+76_1086+77del	NP_570845.1:n.1086+76_1086+77del
NM_130834.3:c.1194+76_1194+77del	NP_570847.2:n.1194+76_1194+77del
NM_130836.3:c.1251+76_1251+77del	NP_570849.2:n.1251+76_1251+77del
NM_015560.3:c.1140+76_1140+77del	NP_056375.2:n.1140+76_1140+77del
NM_130833.3:c.1143+76_1143+77del	NP_570846.1:n.1143+76_1143+77del
NM_130835.3:c.1197+76_1197+77del	NP_570848.1:n.1197+76_1197+77del
NM_130837.3:c.1305+76_1305+77del MANE Select	NP_570850.2:n.1305+76_1305+77del