Canonical Allele Identifier: CA1430250389
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193647007_193647010delinsATTG , CM000665.2:g.193647007_193647010delinsATTG GRCh38
NC_000003.11:g.193364796_193364799delinsATTG , CM000665.1:g.193364796_193364799delinsATTG GRCh37
NC_000003.10:g.194847490_194847493delinsATTG NCBI36
NG_011605.1:g.58864_58867delinsATTG , LRG_337:g.58864_58867delinsATTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1755-58_1755-55delinsATTG MANE Select ENSP00000355324.2:n.1755-58_1755-55delinsATTG
ENST00000361828.7:c.1590-58_1590-55delinsATTG ENSP00000354429.3:n.1590-58_1590-55delinsATTG
ENST00000361908.8:c.1701-58_1701-55delinsATTG ENSP00000354681.3:n.1701-58_1701-55delinsATTG
ENST00000392436.7:c.1590-58_1590-55delinsATTG ENSP00000376231.3:n.1590-58_1590-55delinsATTG
ENST00000392437.6:c.1644-58_1644-55delinsATTG ENSP00000376232.2:n.1644-58_1644-55delinsATTG
ENST00000642289.1:c.1529-58_1529-55delinsATTG
ENST00000642445.1:c.1590-58_1590-55delinsATTG ENSP00000495535.1:n.1590-58_1590-55delinsATTG
ENST00000642593.1:c.1590-58_1590-55delinsATTG ENSP00000494273.1:n.1590-58_1590-55delinsATTG
ENST00000643329.1:c.1272-58_1272-55delinsATTG ENSP00000493673.1:n.1272-58_1272-55delinsATTG
ENST00000643737.1:c.*1671-58_*1671-55delinsATTG ENSP00000494210.1:n.*1671-58_*1671-55delinsATTG
ENST00000644595.1:c.1590-58_1590-55delinsATTG ENSP00000494121.1:n.1590-58_1590-55delinsATTG
ENST00000644629.1:c.1177-58_1177-55delinsATTG
ENST00000644841.1:c.*74-58_*74-55delinsATTG ENSP00000493988.1:n.*74-58_*74-55delinsATTG
ENST00000644959.1:c.1559-58_1559-55delinsATTG
ENST00000645553.1:c.1605-58_1605-55delinsATTG ENSP00000494725.1:n.1605-58_1605-55delinsATTG
ENST00000646085.1:c.*1068-58_*1068-55delinsATTG ENSP00000494509.1:n.*1068-58_*1068-55delinsATTG
ENST00000646277.1:c.*191-58_*191-55delinsATTG ENSP00000495289.1:n.*191-58_*191-55delinsATTG
ENST00000646544.1:c.578-58_578-55delinsATTG
ENST00000646699.1:c.1529-58_1529-55delinsATTG
ENST00000646793.1:c.1482-58_1482-55delinsATTG ENSP00000494512.1:n.1482-58_1482-55delinsATTG
ENST00000361150.6:c.1593-58_1593-55delinsATTG ENSP00000354781.2:n.1593-58_1593-55delinsATTG
ENST00000361510.6:c.1755-58_1755-55delinsATTG ENSP00000355324.2:n.1755-58_1755-55delinsATTG
ENST00000361715.6:c.1647-58_1647-55delinsATTG ENSP00000355311.2:n.1647-58_1647-55delinsATTG
ENST00000361828.6:c.1644-58_1644-55delinsATTG ENSP00000354429.2:n.1644-58_1644-55delinsATTG
ENST00000361908.7:c.1701-58_1701-55delinsATTG ENSP00000354681.3:n.1701-58_1701-55delinsATTG
ENST00000392438.7:c.1590-58_1590-55delinsATTG ENSP00000376233.3:n.1590-58_1590-55delinsATTG
ENST00000483516.1:n.88-58_88-55delinsATTG
NM_015560.2:c.1590-58_1590-55delinsATTG , LRG_337t1:c.1590-58_1590-55delinsATTG NP_056375.2:n.1590-58_1590-55delinsATTG
NM_130831.2:c.1482-58_1482-55delinsATTG NP_570844.1:n.1482-58_1482-55delinsATTG
NM_130832.2:c.1536-58_1536-55delinsATTG NP_570845.1:n.1536-58_1536-55delinsATTG
NM_130833.2:c.1593-58_1593-55delinsATTG NP_570846.1:n.1593-58_1593-55delinsATTG
NM_130834.2:c.1644-58_1644-55delinsATTG NP_570847.2:n.1644-58_1644-55delinsATTG
NM_130835.2:c.1647-58_1647-55delinsATTG NP_570848.1:n.1647-58_1647-55delinsATTG
NM_130836.2:c.1701-58_1701-55delinsATTG NP_570849.2:n.1701-58_1701-55delinsATTG
NM_130837.2:c.1755-58_1755-55delinsATTG , LRG_337t2:c.1755-58_1755-55delinsATTG NP_570850.2:n.1755-58_1755-55delinsATTG
XM_011512863.1:c.1755-58_1755-55delinsATTG XP_011511165.1:n.1755-58_1755-55delinsATTG
XM_011512864.1:c.1701-58_1701-55delinsATTG XP_011511166.1:n.1701-58_1701-55delinsATTG
XM_011512865.1:c.1644-58_1644-55delinsATTG XP_011511167.1:n.1644-58_1644-55delinsATTG
XM_011512866.1:c.1593-58_1593-55delinsATTG XP_011511168.1:n.1593-58_1593-55delinsATTG
XM_011512867.1:c.1590-58_1590-55delinsATTG XP_011511169.1:n.1590-58_1590-55delinsATTG
XM_011512868.1:c.1482-58_1482-55delinsATTG XP_011511170.1:n.1482-58_1482-55delinsATTG
XM_011512869.1:c.1755-58_1755-55delinsATTG XP_011511171.1:n.1755-58_1755-55delinsATTG
NM_001354663.1:c.1221-58_1221-55delinsATTG NP_001341592.1:n.1221-58_1221-55delinsATTG
NM_001354664.1:c.1218-58_1218-55delinsATTG NP_001341593.1:n.1218-58_1218-55delinsATTG
XR_001740158.2:n.1984-58_1984-55delinsATTG
XR_001740159.2:n.1819-58_1819-55delinsATTG
NM_001354663.2:c.1221-58_1221-55delinsATTG NP_001341592.1:n.1221-58_1221-55delinsATTG
NM_001354664.2:c.1218-58_1218-55delinsATTG NP_001341593.1:n.1218-58_1218-55delinsATTG
NM_130831.3:c.1482-58_1482-55delinsATTG NP_570844.1:n.1482-58_1482-55delinsATTG
NM_130832.3:c.1536-58_1536-55delinsATTG NP_570845.1:n.1536-58_1536-55delinsATTG
NM_130834.3:c.1644-58_1644-55delinsATTG NP_570847.2:n.1644-58_1644-55delinsATTG
NM_130836.3:c.1701-58_1701-55delinsATTG NP_570849.2:n.1701-58_1701-55delinsATTG
NM_015560.3:c.1590-58_1590-55delinsATTG NP_056375.2:n.1590-58_1590-55delinsATTG
NM_130833.3:c.1593-58_1593-55delinsATTG NP_570846.1:n.1593-58_1593-55delinsATTG
NM_130835.3:c.1647-58_1647-55delinsATTG NP_570848.1:n.1647-58_1647-55delinsATTG
NM_130837.3:c.1755-58_1755-55delinsATTG MANE Select NP_570850.2:n.1755-58_1755-55delinsATTG