Canonical Allele Identifier: CA2669103175

Gene: OPA1

Linked Data

• gnomAD v4: 3-193643177-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643178_193643180del , CM000665.2:g.193643178_193643180del	GRCh38
NC_000003.11:g.193360967_193360969del , CM000665.1:g.193360967_193360969del	GRCh37
NC_000003.10:g.194843661_194843663del	NCBI36
NG_011605.1:g.55035_55037del , LRG_337:g.55035_55037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1305+129_1305+131del MANE Select	ENSP00000355324.2:n.1305+129_1305+131del
ENST00000361828.7:c.1140+129_1140+131del	ENSP00000354429.3:n.1140+129_1140+131del
ENST00000361908.8:c.1251+129_1251+131del	ENSP00000354681.3:n.1251+129_1251+131del
ENST00000392436.7:c.1140+129_1140+131del	ENSP00000376231.3:n.1140+129_1140+131del
ENST00000392437.6:c.1194+129_1194+131del	ENSP00000376232.2:n.1194+129_1194+131del
ENST00000642289.1:c.1080-195_1080-193del
ENST00000642445.1:c.1140+129_1140+131del	ENSP00000495535.1:n.1140+129_1140+131del
ENST00000642593.1:c.1140+129_1140+131del	ENSP00000494273.1:n.1140+129_1140+131del
ENST00000643329.1:c.822+129_822+131del	ENSP00000493673.1:n.822+129_822+131del
ENST00000643737.1:c.*1221+129_*1221+131del	ENSP00000494210.1:n.*1221+129_*1221+131del
ENST00000644595.1:c.1140+129_1140+131del	ENSP00000494121.1:n.1140+129_1140+131del
ENST00000644629.1:c.800+129_800+131del
ENST00000644841.1:c.768+129_768+131del	ENSP00000493988.1:n.768+129_768+131del
ENST00000644959.1:c.1109+129_1109+131del
ENST00000645553.1:c.1155+129_1155+131del	ENSP00000494725.1:n.1155+129_1155+131del
ENST00000646085.1:c.*618+129_*618+131del	ENSP00000494509.1:n.*618+129_*618+131del
ENST00000646277.1:c.1305+129_1305+131del	ENSP00000495289.1:n.1305+129_1305+131del
ENST00000646544.1:c.129-195_129-193del
ENST00000646699.1:c.1080-195_1080-193del
ENST00000646793.1:c.1032+129_1032+131del	ENSP00000494512.1:n.1032+129_1032+131del
ENST00000361150.6:c.1143+129_1143+131del	ENSP00000354781.2:n.1143+129_1143+131del
ENST00000361510.6:c.1305+129_1305+131del	ENSP00000355324.2:n.1305+129_1305+131del
ENST00000361715.6:c.1197+129_1197+131del	ENSP00000355311.2:n.1197+129_1197+131del
ENST00000361828.6:c.1194+129_1194+131del	ENSP00000354429.2:n.1194+129_1194+131del
ENST00000361908.7:c.1251+129_1251+131del	ENSP00000354681.3:n.1251+129_1251+131del
ENST00000392438.7:c.1140+129_1140+131del	ENSP00000376233.3:n.1140+129_1140+131del
ENST00000475899.1:n.336+129_336+131del
NM_015560.2:c.1140+129_1140+131del , LRG_337t1:c.1140+129_1140+131del	NP_056375.2:n.1140+129_1140+131del
NM_130831.2:c.1032+129_1032+131del	NP_570844.1:n.1032+129_1032+131del
NM_130832.2:c.1086+129_1086+131del	NP_570845.1:n.1086+129_1086+131del
NM_130833.2:c.1143+129_1143+131del	NP_570846.1:n.1143+129_1143+131del
NM_130834.2:c.1194+129_1194+131del	NP_570847.2:n.1194+129_1194+131del
NM_130835.2:c.1197+129_1197+131del	NP_570848.1:n.1197+129_1197+131del
NM_130836.2:c.1251+129_1251+131del	NP_570849.2:n.1251+129_1251+131del
NM_130837.2:c.1305+129_1305+131del , LRG_337t2:c.1305+129_1305+131del	NP_570850.2:n.1305+129_1305+131del
XM_011512863.1:c.1305+129_1305+131del	XP_011511165.1:n.1305+129_1305+131del
XM_011512864.1:c.1251+129_1251+131del	XP_011511166.1:n.1251+129_1251+131del
XM_011512865.1:c.1194+129_1194+131del	XP_011511167.1:n.1194+129_1194+131del
XM_011512866.1:c.1143+129_1143+131del	XP_011511168.1:n.1143+129_1143+131del
XM_011512867.1:c.1140+129_1140+131del	XP_011511169.1:n.1140+129_1140+131del
XM_011512868.1:c.1032+129_1032+131del	XP_011511170.1:n.1032+129_1032+131del
XM_011512869.1:c.1305+129_1305+131del	XP_011511171.1:n.1305+129_1305+131del
NM_001354663.1:c.771+129_771+131del	NP_001341592.1:n.771+129_771+131del
NM_001354664.1:c.768+129_768+131del	NP_001341593.1:n.768+129_768+131del
XR_001740158.2:n.1534+129_1534+131del
XR_001740159.2:n.1369+129_1369+131del
NM_001354663.2:c.771+129_771+131del	NP_001341592.1:n.771+129_771+131del
NM_001354664.2:c.768+129_768+131del	NP_001341593.1:n.768+129_768+131del
NM_130831.3:c.1032+129_1032+131del	NP_570844.1:n.1032+129_1032+131del
NM_130832.3:c.1086+129_1086+131del	NP_570845.1:n.1086+129_1086+131del
NM_130834.3:c.1194+129_1194+131del	NP_570847.2:n.1194+129_1194+131del
NM_130836.3:c.1251+129_1251+131del	NP_570849.2:n.1251+129_1251+131del
NM_015560.3:c.1140+129_1140+131del	NP_056375.2:n.1140+129_1140+131del
NM_130833.3:c.1143+129_1143+131del	NP_570846.1:n.1143+129_1143+131del
NM_130835.3:c.1197+129_1197+131del	NP_570848.1:n.1197+129_1197+131del
NM_130837.3:c.1305+129_1305+131del MANE Select	NP_570850.2:n.1305+129_1305+131del