Canonical Allele Identifier: CA1430250496
Gene: OPA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193647050_193647052delinsATT , CM000665.2:g.193647050_193647052delinsATT GRCh38
NC_000003.11:g.193364839_193364841delinsATT , CM000665.1:g.193364839_193364841delinsATT GRCh37
NC_000003.10:g.194847533_194847535delinsATT NCBI36
NG_011605.1:g.58907_58909delinsATT , LRG_337:g.58907_58909delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1755-15_1755-13delinsATT MANE Select ENSP00000355324.2:n.1755-15_1755-13delinsATT
ENST00000361828.7:c.1590-15_1590-13delinsATT ENSP00000354429.3:n.1590-15_1590-13delinsATT
ENST00000361908.8:c.1701-15_1701-13delinsATT ENSP00000354681.3:n.1701-15_1701-13delinsATT
ENST00000392436.7:c.1590-15_1590-13delinsATT ENSP00000376231.3:n.1590-15_1590-13delinsATT
ENST00000392437.6:c.1644-15_1644-13delinsATT ENSP00000376232.2:n.1644-15_1644-13delinsATT
ENST00000642289.1:c.1529-15_1529-13delinsATT
ENST00000642445.1:c.1590-15_1590-13delinsATT ENSP00000495535.1:n.1590-15_1590-13delinsATT
ENST00000642593.1:c.1590-15_1590-13delinsATT ENSP00000494273.1:n.1590-15_1590-13delinsATT
ENST00000643329.1:c.1272-15_1272-13delinsATT ENSP00000493673.1:n.1272-15_1272-13delinsATT
ENST00000643737.1:c.*1671-15_*1671-13delinsATT ENSP00000494210.1:n.*1671-15_*1671-13delinsATT
ENST00000644595.1:c.1590-15_1590-13delinsATT ENSP00000494121.1:n.1590-15_1590-13delinsATT
ENST00000644629.1:c.1177-15_1177-13delinsATT
ENST00000644841.1:c.*74-15_*74-13delinsATT ENSP00000493988.1:n.*74-15_*74-13delinsATT
ENST00000644959.1:c.1559-15_1559-13delinsATT
ENST00000645553.1:c.1605-15_1605-13delinsATT ENSP00000494725.1:n.1605-15_1605-13delinsATT
ENST00000646085.1:c.*1068-15_*1068-13delinsATT ENSP00000494509.1:n.*1068-15_*1068-13delinsATT
ENST00000646277.1:c.*191-15_*191-13delinsATT ENSP00000495289.1:n.*191-15_*191-13delinsATT
ENST00000646544.1:c.578-15_578-13delinsATT
ENST00000646699.1:c.1529-15_1529-13delinsATT
ENST00000646793.1:c.1482-15_1482-13delinsATT ENSP00000494512.1:n.1482-15_1482-13delinsATT
ENST00000361150.6:c.1593-15_1593-13delinsATT ENSP00000354781.2:n.1593-15_1593-13delinsATT
ENST00000361510.6:c.1755-15_1755-13delinsATT ENSP00000355324.2:n.1755-15_1755-13delinsATT
ENST00000361715.6:c.1647-15_1647-13delinsATT ENSP00000355311.2:n.1647-15_1647-13delinsATT
ENST00000361828.6:c.1644-15_1644-13delinsATT ENSP00000354429.2:n.1644-15_1644-13delinsATT
ENST00000361908.7:c.1701-15_1701-13delinsATT ENSP00000354681.3:n.1701-15_1701-13delinsATT
ENST00000392438.7:c.1590-15_1590-13delinsATT ENSP00000376233.3:n.1590-15_1590-13delinsATT
ENST00000483516.1:n.88-15_88-13delinsATT
NM_015560.2:c.1590-15_1590-13delinsATT , LRG_337t1:c.1590-15_1590-13delinsATT NP_056375.2:n.1590-15_1590-13delinsATT
NM_130831.2:c.1482-15_1482-13delinsATT NP_570844.1:n.1482-15_1482-13delinsATT
NM_130832.2:c.1536-15_1536-13delinsATT NP_570845.1:n.1536-15_1536-13delinsATT
NM_130833.2:c.1593-15_1593-13delinsATT NP_570846.1:n.1593-15_1593-13delinsATT
NM_130834.2:c.1644-15_1644-13delinsATT NP_570847.2:n.1644-15_1644-13delinsATT
NM_130835.2:c.1647-15_1647-13delinsATT NP_570848.1:n.1647-15_1647-13delinsATT
NM_130836.2:c.1701-15_1701-13delinsATT NP_570849.2:n.1701-15_1701-13delinsATT
NM_130837.2:c.1755-15_1755-13delinsATT , LRG_337t2:c.1755-15_1755-13delinsATT NP_570850.2:n.1755-15_1755-13delinsATT
XM_011512863.1:c.1755-15_1755-13delinsATT XP_011511165.1:n.1755-15_1755-13delinsATT
XM_011512864.1:c.1701-15_1701-13delinsATT XP_011511166.1:n.1701-15_1701-13delinsATT
XM_011512865.1:c.1644-15_1644-13delinsATT XP_011511167.1:n.1644-15_1644-13delinsATT
XM_011512866.1:c.1593-15_1593-13delinsATT XP_011511168.1:n.1593-15_1593-13delinsATT
XM_011512867.1:c.1590-15_1590-13delinsATT XP_011511169.1:n.1590-15_1590-13delinsATT
XM_011512868.1:c.1482-15_1482-13delinsATT XP_011511170.1:n.1482-15_1482-13delinsATT
XM_011512869.1:c.1755-15_1755-13delinsATT XP_011511171.1:n.1755-15_1755-13delinsATT
NM_001354663.1:c.1221-15_1221-13delinsATT NP_001341592.1:n.1221-15_1221-13delinsATT
NM_001354664.1:c.1218-15_1218-13delinsATT NP_001341593.1:n.1218-15_1218-13delinsATT
XR_001740158.2:n.1984-15_1984-13delinsATT
XR_001740159.2:n.1819-15_1819-13delinsATT
NM_001354663.2:c.1221-15_1221-13delinsATT NP_001341592.1:n.1221-15_1221-13delinsATT
NM_001354664.2:c.1218-15_1218-13delinsATT NP_001341593.1:n.1218-15_1218-13delinsATT
NM_130831.3:c.1482-15_1482-13delinsATT NP_570844.1:n.1482-15_1482-13delinsATT
NM_130832.3:c.1536-15_1536-13delinsATT NP_570845.1:n.1536-15_1536-13delinsATT
NM_130834.3:c.1644-15_1644-13delinsATT NP_570847.2:n.1644-15_1644-13delinsATT
NM_130836.3:c.1701-15_1701-13delinsATT NP_570849.2:n.1701-15_1701-13delinsATT
NM_015560.3:c.1590-15_1590-13delinsATT NP_056375.2:n.1590-15_1590-13delinsATT
NM_130833.3:c.1593-15_1593-13delinsATT NP_570846.1:n.1593-15_1593-13delinsATT
NM_130835.3:c.1647-15_1647-13delinsATT NP_570848.1:n.1647-15_1647-13delinsATT
NM_130837.3:c.1755-15_1755-13delinsATT MANE Select NP_570850.2:n.1755-15_1755-13delinsATT
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