Canonical Allele Identifier: CA2669105883
Gene: OPA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193646938del , CM000665.2:g.193646938del GRCh38
NC_000003.11:g.193364727del , CM000665.1:g.193364727del GRCh37
NC_000003.10:g.194847421del NCBI36
NG_011605.1:g.58795del , LRG_337:g.58795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1755-127del MANE Select ENSP00000355324.2:n.1755-127del
ENST00000361828.7:c.1590-127del ENSP00000354429.3:n.1590-127del
ENST00000361908.8:c.1701-127del ENSP00000354681.3:n.1701-127del
ENST00000392436.7:c.1590-127del ENSP00000376231.3:n.1590-127del
ENST00000392437.6:c.1644-127del ENSP00000376232.2:n.1644-127del
ENST00000642289.1:c.1529-127del
ENST00000642445.1:c.1590-127del ENSP00000495535.1:n.1590-127del
ENST00000642593.1:c.1590-127del ENSP00000494273.1:n.1590-127del
ENST00000643329.1:c.1272-127del ENSP00000493673.1:n.1272-127del
ENST00000643737.1:c.*1671-127del ENSP00000494210.1:n.*1671-127del
ENST00000644595.1:c.1590-127del ENSP00000494121.1:n.1590-127del
ENST00000644629.1:c.1177-127del
ENST00000644841.1:c.*74-127del ENSP00000493988.1:n.*74-127del
ENST00000644959.1:c.1559-127del
ENST00000645553.1:c.1605-127del ENSP00000494725.1:n.1605-127del
ENST00000646085.1:c.*1068-127del ENSP00000494509.1:n.*1068-127del
ENST00000646277.1:c.*191-127del ENSP00000495289.1:n.*191-127del
ENST00000646544.1:c.578-127del
ENST00000646699.1:c.1529-127del
ENST00000646793.1:c.1482-127del ENSP00000494512.1:n.1482-127del
ENST00000361150.6:c.1593-127del ENSP00000354781.2:n.1593-127del
ENST00000361510.6:c.1755-127del ENSP00000355324.2:n.1755-127del
ENST00000361715.6:c.1647-127del ENSP00000355311.2:n.1647-127del
ENST00000361828.6:c.1644-127del ENSP00000354429.2:n.1644-127del
ENST00000361908.7:c.1701-127del ENSP00000354681.3:n.1701-127del
ENST00000392438.7:c.1590-127del ENSP00000376233.3:n.1590-127del
ENST00000483516.1:n.88-127del
NM_015560.2:c.1590-127del , LRG_337t1:c.1590-127del NP_056375.2:n.1590-127del
NM_130831.2:c.1482-127del NP_570844.1:n.1482-127del
NM_130832.2:c.1536-127del NP_570845.1:n.1536-127del
NM_130833.2:c.1593-127del NP_570846.1:n.1593-127del
NM_130834.2:c.1644-127del NP_570847.2:n.1644-127del
NM_130835.2:c.1647-127del NP_570848.1:n.1647-127del
NM_130836.2:c.1701-127del NP_570849.2:n.1701-127del
NM_130837.2:c.1755-127del , LRG_337t2:c.1755-127del NP_570850.2:n.1755-127del
XM_011512863.1:c.1755-127del XP_011511165.1:n.1755-127del
XM_011512864.1:c.1701-127del XP_011511166.1:n.1701-127del
XM_011512865.1:c.1644-127del XP_011511167.1:n.1644-127del
XM_011512866.1:c.1593-127del XP_011511168.1:n.1593-127del
XM_011512867.1:c.1590-127del XP_011511169.1:n.1590-127del
XM_011512868.1:c.1482-127del XP_011511170.1:n.1482-127del
XM_011512869.1:c.1755-127del XP_011511171.1:n.1755-127del
NM_001354663.1:c.1221-127del NP_001341592.1:n.1221-127del
NM_001354664.1:c.1218-127del NP_001341593.1:n.1218-127del
XR_001740158.2:n.1984-127del
XR_001740159.2:n.1819-127del
NM_001354663.2:c.1221-127del NP_001341592.1:n.1221-127del
NM_001354664.2:c.1218-127del NP_001341593.1:n.1218-127del
NM_130831.3:c.1482-127del NP_570844.1:n.1482-127del
NM_130832.3:c.1536-127del NP_570845.1:n.1536-127del
NM_130834.3:c.1644-127del NP_570847.2:n.1644-127del
NM_130836.3:c.1701-127del NP_570849.2:n.1701-127del
NM_015560.3:c.1590-127del NP_056375.2:n.1590-127del
NM_130833.3:c.1593-127del NP_570846.1:n.1593-127del
NM_130835.3:c.1647-127del NP_570848.1:n.1647-127del
NM_130837.3:c.1755-127del MANE Select NP_570850.2:n.1755-127del