Canonical Allele Identifier: CA2669103019
Gene: OPA1 HGNC NCBI

Linked Data

gnomAD v4: 3-193642631-GGTGCCCCAGCAGTA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193642635_193642648del , CM000665.2:g.193642635_193642648del GRCh38
NC_000003.11:g.193360424_193360437del , CM000665.1:g.193360424_193360437del GRCh37
NC_000003.10:g.194843118_194843131del NCBI36
NG_011605.1:g.54492_54505del , LRG_337:g.54492_54505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1150-130_1150-117del MANE Select ENSP00000355324.2:n.1150-130_1150-117del
ENST00000361828.7:c.985-130_985-117del ENSP00000354429.3:n.985-130_985-117del
ENST00000361908.8:c.1096-130_1096-117del ENSP00000354681.3:n.1096-130_1096-117del
ENST00000392436.7:c.985-130_985-117del ENSP00000376231.3:n.985-130_985-117del
ENST00000392437.6:c.1039-130_1039-117del ENSP00000376232.2:n.1039-130_1039-117del
ENST00000642289.1:c.1080-738_1080-725del
ENST00000642445.1:c.985-130_985-117del ENSP00000495535.1:n.985-130_985-117del
ENST00000642593.1:c.985-130_985-117del ENSP00000494273.1:n.985-130_985-117del
ENST00000643329.1:c.667-130_667-117del ENSP00000493673.1:n.667-130_667-117del
ENST00000643737.1:c.*1066-130_*1066-117del ENSP00000494210.1:n.*1066-130_*1066-117del
ENST00000644595.1:c.985-130_985-117del ENSP00000494121.1:n.985-130_985-117del
ENST00000644629.1:c.645-130_645-117del
ENST00000644841.1:c.613-130_613-117del ENSP00000493988.1:n.613-130_613-117del
ENST00000644959.1:c.954-130_954-117del
ENST00000645553.1:c.1000-130_1000-117del ENSP00000494725.1:n.1000-130_1000-117del
ENST00000646085.1:c.*463-130_*463-117del ENSP00000494509.1:n.*463-130_*463-117del
ENST00000646277.1:c.1150-130_1150-117del ENSP00000495289.1:n.1150-130_1150-117del
ENST00000646544.1:c.48-130_48-117del
ENST00000646699.1:c.1080-738_1080-725del
ENST00000646793.1:c.877-130_877-117del ENSP00000494512.1:n.877-130_877-117del
ENST00000361150.6:c.988-130_988-117del ENSP00000354781.2:n.988-130_988-117del
ENST00000361510.6:c.1150-130_1150-117del ENSP00000355324.2:n.1150-130_1150-117del
ENST00000361715.6:c.1042-130_1042-117del ENSP00000355311.2:n.1042-130_1042-117del
ENST00000361828.6:c.1039-130_1039-117del ENSP00000354429.2:n.1039-130_1039-117del
ENST00000361908.7:c.1096-130_1096-117del ENSP00000354681.3:n.1096-130_1096-117del
ENST00000392438.7:c.985-130_985-117del ENSP00000376233.3:n.985-130_985-117del
ENST00000475899.1:n.181-130_181-117del
ENST00000497189.5:n.471-130_471-117del
NM_015560.2:c.985-130_985-117del , LRG_337t1:c.985-130_985-117del NP_056375.2:n.985-130_985-117del
NM_130831.2:c.877-130_877-117del NP_570844.1:n.877-130_877-117del
NM_130832.2:c.931-130_931-117del NP_570845.1:n.931-130_931-117del
NM_130833.2:c.988-130_988-117del NP_570846.1:n.988-130_988-117del
NM_130834.2:c.1039-130_1039-117del NP_570847.2:n.1039-130_1039-117del
NM_130835.2:c.1042-130_1042-117del NP_570848.1:n.1042-130_1042-117del
NM_130836.2:c.1096-130_1096-117del NP_570849.2:n.1096-130_1096-117del
NM_130837.2:c.1150-130_1150-117del , LRG_337t2:c.1150-130_1150-117del NP_570850.2:n.1150-130_1150-117del
XM_011512863.1:c.1150-130_1150-117del XP_011511165.1:n.1150-130_1150-117del
XM_011512864.1:c.1096-130_1096-117del XP_011511166.1:n.1096-130_1096-117del
XM_011512865.1:c.1039-130_1039-117del XP_011511167.1:n.1039-130_1039-117del
XM_011512866.1:c.988-130_988-117del XP_011511168.1:n.988-130_988-117del
XM_011512867.1:c.985-130_985-117del XP_011511169.1:n.985-130_985-117del
XM_011512868.1:c.877-130_877-117del XP_011511170.1:n.877-130_877-117del
XM_011512869.1:c.1150-130_1150-117del XP_011511171.1:n.1150-130_1150-117del
NM_001354663.1:c.616-130_616-117del NP_001341592.1:n.616-130_616-117del
NM_001354664.1:c.613-130_613-117del NP_001341593.1:n.613-130_613-117del
XR_001740158.2:n.1379-130_1379-117del
XR_001740159.2:n.1214-130_1214-117del
NM_001354663.2:c.616-130_616-117del NP_001341592.1:n.616-130_616-117del
NM_001354664.2:c.613-130_613-117del NP_001341593.1:n.613-130_613-117del
NM_130831.3:c.877-130_877-117del NP_570844.1:n.877-130_877-117del
NM_130832.3:c.931-130_931-117del NP_570845.1:n.931-130_931-117del
NM_130834.3:c.1039-130_1039-117del NP_570847.2:n.1039-130_1039-117del
NM_130836.3:c.1096-130_1096-117del NP_570849.2:n.1096-130_1096-117del
NM_015560.3:c.985-130_985-117del NP_056375.2:n.985-130_985-117del
NM_130833.3:c.988-130_988-117del NP_570846.1:n.988-130_988-117del
NM_130835.3:c.1042-130_1042-117del NP_570848.1:n.1042-130_1042-117del
NM_130837.3:c.1150-130_1150-117del MANE Select NP_570850.2:n.1150-130_1150-117del
Search 100 bp 5'
Search 100 bp 3'