Canonical Allele Identifier: CA2704972967
Gene: OPA1 HGNC NCBI

Linked Data

dbSNP Id: rs2109070642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193647182_193647183insTTTAACCTTGAAACTGAATGG , CM000665.2:g.193647182_193647183insTTTAACCTTGAAACTGAATGG GRCh38
NC_000003.11:g.193364971_193364972insTTTAACCTTGAAACTGAATGG , CM000665.1:g.193364971_193364972insTTTAACCTTGAAACTGAATGG GRCh37
NC_000003.10:g.194847665_194847666insTTTAACCTTGAAACTGAATGG NCBI36
NG_011605.1:g.59039_59040insTTTAACCTTGAAACTGAATGG , LRG_337:g.59039_59040insTTTAACCTTGAAACTGAATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG MANE Select ENSP00000355324.2:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
ENST00000361828.7:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000354429.3:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000361908.8:c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG ENSP00000354681.3:n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG
ENST00000392436.7:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000376231.3:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000392437.6:c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG ENSP00000376232.2:n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG
ENST00000642289.1:c.1644+2_1644+3insTTTAACCTTGAAACTGAATGG
ENST00000642445.1:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000495535.1:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000642593.1:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000494273.1:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000643329.1:c.1387+2_1387+3insTTTAACCTTGAAACTGAATGG ENSP00000493673.1:n.1387+2_1387+3insTTTAACCTTGAAACTGAATGG
ENST00000643737.1:c.*1786+2_*1786+3insTTTAACCTTGAAACTGAATGG ENSP00000494210.1:n.*1786+2_*1786+3insTTTAACCTTGAAACTGAATGG
ENST00000644595.1:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000494121.1:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000644629.1:c.1292+2_1292+3insTTTAACCTTGAAACTGAATGG
ENST00000644841.1:c.*189+2_*189+3insTTTAACCTTGAAACTGAATGG ENSP00000493988.1:n.*189+2_*189+3insTTTAACCTTGAAACTGAATGG
ENST00000644959.1:c.1674+2_1674+3insTTTAACCTTGAAACTGAATGG
ENST00000645553.1:c.1720+2_1720+3insTTTAACCTTGAAACTGAATGG ENSP00000494725.1:n.1720+2_1720+3insTTTAACCTTGAAACTGAATGG
ENST00000646085.1:c.*1183+2_*1183+3insTTTAACCTTGAAACTGAATGG ENSP00000494509.1:n.*1183+2_*1183+3insTTTAACCTTGAAACTGAATGG
ENST00000646277.1:c.*306+2_*306+3insTTTAACCTTGAAACTGAATGG ENSP00000495289.1:n.*306+2_*306+3insTTTAACCTTGAAACTGAATGG
ENST00000646544.1:c.693+2_693+3insTTTAACCTTGAAACTGAATGG
ENST00000646699.1:c.1644+2_1644+3insTTTAACCTTGAAACTGAATGG
ENST00000646793.1:c.1597+2_1597+3insTTTAACCTTGAAACTGAATGG ENSP00000494512.1:n.1597+2_1597+3insTTTAACCTTGAAACTGAATGG
ENST00000361150.6:c.1708+2_1708+3insTTTAACCTTGAAACTGAATGG ENSP00000354781.2:n.1708+2_1708+3insTTTAACCTTGAAACTGAATGG
ENST00000361510.6:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG ENSP00000355324.2:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
ENST00000361715.6:c.1762+2_1762+3insTTTAACCTTGAAACTGAATGG ENSP00000355311.2:n.1762+2_1762+3insTTTAACCTTGAAACTGAATGG
ENST00000361828.6:c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG ENSP00000354429.2:n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG
ENST00000361908.7:c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG ENSP00000354681.3:n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG
ENST00000392438.7:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG ENSP00000376233.3:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
ENST00000483516.1:n.203+2_203+3insTTTAACCTTGAAACTGAATGG
NM_015560.2:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG , LRG_337t1:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG NP_056375.2:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
NM_130831.2:c.1597+2_1597+3insTTTAACCTTGAAACTGAATGG NP_570844.1:n.1597+2_1597+3insTTTAACCTTGAAACTGAATGG
NM_130832.2:c.1651+2_1651+3insTTTAACCTTGAAACTGAATGG NP_570845.1:n.1651+2_1651+3insTTTAACCTTGAAACTGAATGG
NM_130833.2:c.1708+2_1708+3insTTTAACCTTGAAACTGAATGG NP_570846.1:n.1708+2_1708+3insTTTAACCTTGAAACTGAATGG
NM_130834.2:c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG NP_570847.2:n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG
NM_130835.2:c.1762+2_1762+3insTTTAACCTTGAAACTGAATGG NP_570848.1:n.1762+2_1762+3insTTTAACCTTGAAACTGAATGG
NM_130836.2:c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG NP_570849.2:n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG
NM_130837.2:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG , LRG_337t2:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG NP_570850.2:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
XM_011512863.1:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG XP_011511165.1:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
XM_011512864.1:c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG XP_011511166.1:n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG
XM_011512865.1:c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG XP_011511167.1:n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG
XM_011512866.1:c.1708+2_1708+3insTTTAACCTTGAAACTGAATGG XP_011511168.1:n.1708+2_1708+3insTTTAACCTTGAAACTGAATGG
XM_011512867.1:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG XP_011511169.1:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
XM_011512868.1:c.1597+2_1597+3insTTTAACCTTGAAACTGAATGG XP_011511170.1:n.1597+2_1597+3insTTTAACCTTGAAACTGAATGG
XM_011512869.1:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG XP_011511171.1:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
NM_001354663.1:c.1336+2_1336+3insTTTAACCTTGAAACTGAATGG NP_001341592.1:n.1336+2_1336+3insTTTAACCTTGAAACTGAATGG
NM_001354664.1:c.1333+2_1333+3insTTTAACCTTGAAACTGAATGG NP_001341593.1:n.1333+2_1333+3insTTTAACCTTGAAACTGAATGG
XR_001740158.2:n.2099+2_2099+3insTTTAACCTTGAAACTGAATGG
XR_001740159.2:n.1934+2_1934+3insTTTAACCTTGAAACTGAATGG
NM_001354663.2:c.1336+2_1336+3insTTTAACCTTGAAACTGAATGG NP_001341592.1:n.1336+2_1336+3insTTTAACCTTGAAACTGAATGG
NM_001354664.2:c.1333+2_1333+3insTTTAACCTTGAAACTGAATGG NP_001341593.1:n.1333+2_1333+3insTTTAACCTTGAAACTGAATGG
NM_130831.3:c.1597+2_1597+3insTTTAACCTTGAAACTGAATGG NP_570844.1:n.1597+2_1597+3insTTTAACCTTGAAACTGAATGG
NM_130832.3:c.1651+2_1651+3insTTTAACCTTGAAACTGAATGG NP_570845.1:n.1651+2_1651+3insTTTAACCTTGAAACTGAATGG
NM_130834.3:c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG NP_570847.2:n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG
NM_130836.3:c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG NP_570849.2:n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG
NM_015560.3:c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG NP_056375.2:n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG
NM_130833.3:c.1708+2_1708+3insTTTAACCTTGAAACTGAATGG NP_570846.1:n.1708+2_1708+3insTTTAACCTTGAAACTGAATGG
NM_130835.3:c.1762+2_1762+3insTTTAACCTTGAAACTGAATGG NP_570848.1:n.1762+2_1762+3insTTTAACCTTGAAACTGAATGG
NM_130837.3:c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG MANE Select NP_570850.2:n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG
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Search 100 bp 3'