Canonical Allele Identifier: CA1430243837

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642913_193642914delinsTA , CM000665.2:g.193642913_193642914delinsTA	GRCh38
NC_000003.11:g.193360702_193360703delinsTA , CM000665.1:g.193360702_193360703delinsTA	GRCh37
NC_000003.10:g.194843396_194843397delinsTA	NCBI36
NG_011605.1:g.54770_54771delinsTA , LRG_337:g.54770_54771delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1231-62_1231-61delinsTA MANE Select	ENSP00000355324.2:n.1231-62_1231-61delinsTA
ENST00000361828.7:c.1066-62_1066-61delinsTA	ENSP00000354429.3:n.1066-62_1066-61delinsTA
ENST00000361908.8:c.1177-62_1177-61delinsTA	ENSP00000354681.3:n.1177-62_1177-61delinsTA
ENST00000392436.7:c.1066-62_1066-61delinsTA	ENSP00000376231.3:n.1066-62_1066-61delinsTA
ENST00000392437.6:c.1120-62_1120-61delinsTA	ENSP00000376232.2:n.1120-62_1120-61delinsTA
ENST00000642289.1:c.1080-460_1080-459delinsTA
ENST00000642445.1:c.1066-62_1066-61delinsTA	ENSP00000495535.1:n.1066-62_1066-61delinsTA
ENST00000642593.1:c.1066-62_1066-61delinsTA	ENSP00000494273.1:n.1066-62_1066-61delinsTA
ENST00000643329.1:c.748-62_748-61delinsTA	ENSP00000493673.1:n.748-62_748-61delinsTA
ENST00000643737.1:c.*1147-62_*1147-61delinsTA	ENSP00000494210.1:n.*1147-62_*1147-61delinsTA
ENST00000644595.1:c.1066-62_1066-61delinsTA	ENSP00000494121.1:n.1066-62_1066-61delinsTA
ENST00000644629.1:c.726-62_726-61delinsTA
ENST00000644841.1:c.694-62_694-61delinsTA	ENSP00000493988.1:n.694-62_694-61delinsTA
ENST00000644959.1:c.1035-62_1035-61delinsTA
ENST00000645553.1:c.1081-62_1081-61delinsTA	ENSP00000494725.1:n.1081-62_1081-61delinsTA
ENST00000646085.1:c.*544-62_*544-61delinsTA	ENSP00000494509.1:n.*544-62_*544-61delinsTA
ENST00000646277.1:c.1231-62_1231-61delinsTA	ENSP00000495289.1:n.1231-62_1231-61delinsTA
ENST00000646544.1:c.128+68_128+69delinsTA
ENST00000646699.1:c.1080-460_1080-459delinsTA
ENST00000646793.1:c.958-62_958-61delinsTA	ENSP00000494512.1:n.958-62_958-61delinsTA
ENST00000361150.6:c.1069-62_1069-61delinsTA	ENSP00000354781.2:n.1069-62_1069-61delinsTA
ENST00000361510.6:c.1231-62_1231-61delinsTA	ENSP00000355324.2:n.1231-62_1231-61delinsTA
ENST00000361715.6:c.1123-62_1123-61delinsTA	ENSP00000355311.2:n.1123-62_1123-61delinsTA
ENST00000361828.6:c.1120-62_1120-61delinsTA	ENSP00000354429.2:n.1120-62_1120-61delinsTA
ENST00000361908.7:c.1177-62_1177-61delinsTA	ENSP00000354681.3:n.1177-62_1177-61delinsTA
ENST00000392438.7:c.1066-62_1066-61delinsTA	ENSP00000376233.3:n.1066-62_1066-61delinsTA
ENST00000475899.1:n.262-62_262-61delinsTA
ENST00000497189.5:n.552-62_552-61delinsTA
NM_015560.2:c.1066-62_1066-61delinsTA , LRG_337t1:c.1066-62_1066-61delinsTA	NP_056375.2:n.1066-62_1066-61delinsTA
NM_130831.2:c.958-62_958-61delinsTA	NP_570844.1:n.958-62_958-61delinsTA
NM_130832.2:c.1012-62_1012-61delinsTA	NP_570845.1:n.1012-62_1012-61delinsTA
NM_130833.2:c.1069-62_1069-61delinsTA	NP_570846.1:n.1069-62_1069-61delinsTA
NM_130834.2:c.1120-62_1120-61delinsTA	NP_570847.2:n.1120-62_1120-61delinsTA
NM_130835.2:c.1123-62_1123-61delinsTA	NP_570848.1:n.1123-62_1123-61delinsTA
NM_130836.2:c.1177-62_1177-61delinsTA	NP_570849.2:n.1177-62_1177-61delinsTA
NM_130837.2:c.1231-62_1231-61delinsTA , LRG_337t2:c.1231-62_1231-61delinsTA	NP_570850.2:n.1231-62_1231-61delinsTA
XM_011512863.1:c.1231-62_1231-61delinsTA	XP_011511165.1:n.1231-62_1231-61delinsTA
XM_011512864.1:c.1177-62_1177-61delinsTA	XP_011511166.1:n.1177-62_1177-61delinsTA
XM_011512865.1:c.1120-62_1120-61delinsTA	XP_011511167.1:n.1120-62_1120-61delinsTA
XM_011512866.1:c.1069-62_1069-61delinsTA	XP_011511168.1:n.1069-62_1069-61delinsTA
XM_011512867.1:c.1066-62_1066-61delinsTA	XP_011511169.1:n.1066-62_1066-61delinsTA
XM_011512868.1:c.958-62_958-61delinsTA	XP_011511170.1:n.958-62_958-61delinsTA
XM_011512869.1:c.1231-62_1231-61delinsTA	XP_011511171.1:n.1231-62_1231-61delinsTA
NM_001354663.1:c.697-62_697-61delinsTA	NP_001341592.1:n.697-62_697-61delinsTA
NM_001354664.1:c.694-62_694-61delinsTA	NP_001341593.1:n.694-62_694-61delinsTA
XR_001740158.2:n.1460-62_1460-61delinsTA
XR_001740159.2:n.1295-62_1295-61delinsTA
NM_001354663.2:c.697-62_697-61delinsTA	NP_001341592.1:n.697-62_697-61delinsTA
NM_001354664.2:c.694-62_694-61delinsTA	NP_001341593.1:n.694-62_694-61delinsTA
NM_130831.3:c.958-62_958-61delinsTA	NP_570844.1:n.958-62_958-61delinsTA
NM_130832.3:c.1012-62_1012-61delinsTA	NP_570845.1:n.1012-62_1012-61delinsTA
NM_130834.3:c.1120-62_1120-61delinsTA	NP_570847.2:n.1120-62_1120-61delinsTA
NM_130836.3:c.1177-62_1177-61delinsTA	NP_570849.2:n.1177-62_1177-61delinsTA
NM_015560.3:c.1066-62_1066-61delinsTA	NP_056375.2:n.1066-62_1066-61delinsTA
NM_130833.3:c.1069-62_1069-61delinsTA	NP_570846.1:n.1069-62_1069-61delinsTA
NM_130835.3:c.1123-62_1123-61delinsTA	NP_570848.1:n.1123-62_1123-61delinsTA
NM_130837.3:c.1231-62_1231-61delinsTA MANE Select	NP_570850.2:n.1231-62_1231-61delinsTA