Canonical Allele Identifier: CA1430250808

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647190_193647193delinsATTT , CM000665.2:g.193647190_193647193delinsATTT	GRCh38
NC_000003.11:g.193364979_193364982delinsATTT , CM000665.1:g.193364979_193364982delinsATTT	GRCh37
NC_000003.10:g.194847673_194847676delinsATTT	NCBI36
NG_011605.1:g.59047_59050delinsATTT , LRG_337:g.59047_59050delinsATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1870+10_1870+13delinsATTT MANE Select	ENSP00000355324.2:n.1870+10_1870+13delinsATTT
ENST00000361828.7:c.1705+10_1705+13delinsATTT	ENSP00000354429.3:n.1705+10_1705+13delinsATTT
ENST00000361908.8:c.1816+10_1816+13delinsATTT	ENSP00000354681.3:n.1816+10_1816+13delinsATTT
ENST00000392436.7:c.1705+10_1705+13delinsATTT	ENSP00000376231.3:n.1705+10_1705+13delinsATTT
ENST00000392437.6:c.1759+10_1759+13delinsATTT	ENSP00000376232.2:n.1759+10_1759+13delinsATTT
ENST00000642289.1:c.1644+10_1644+13delinsATTT
ENST00000642445.1:c.1705+10_1705+13delinsATTT	ENSP00000495535.1:n.1705+10_1705+13delinsATTT
ENST00000642593.1:c.1705+10_1705+13delinsATTT	ENSP00000494273.1:n.1705+10_1705+13delinsATTT
ENST00000643329.1:c.1387+10_1387+13delinsATTT	ENSP00000493673.1:n.1387+10_1387+13delinsATTT
ENST00000643737.1:c.*1786+10_*1786+13delinsATTT	ENSP00000494210.1:n.*1786+10_*1786+13delinsATTT
ENST00000644595.1:c.1705+10_1705+13delinsATTT	ENSP00000494121.1:n.1705+10_1705+13delinsATTT
ENST00000644629.1:c.1292+10_1292+13delinsATTT
ENST00000644841.1:c.*189+10_*189+13delinsATTT	ENSP00000493988.1:n.*189+10_*189+13delinsATTT
ENST00000644959.1:c.1674+10_1674+13delinsATTT
ENST00000645553.1:c.1720+10_1720+13delinsATTT	ENSP00000494725.1:n.1720+10_1720+13delinsATTT
ENST00000646085.1:c.*1183+10_*1183+13delinsATTT	ENSP00000494509.1:n.*1183+10_*1183+13delinsATTT
ENST00000646277.1:c.*306+10_*306+13delinsATTT	ENSP00000495289.1:n.*306+10_*306+13delinsATTT
ENST00000646544.1:c.693+10_693+13delinsATTT
ENST00000646699.1:c.1644+10_1644+13delinsATTT
ENST00000646793.1:c.1597+10_1597+13delinsATTT	ENSP00000494512.1:n.1597+10_1597+13delinsATTT
ENST00000361150.6:c.1708+10_1708+13delinsATTT	ENSP00000354781.2:n.1708+10_1708+13delinsATTT
ENST00000361510.6:c.1870+10_1870+13delinsATTT	ENSP00000355324.2:n.1870+10_1870+13delinsATTT
ENST00000361715.6:c.1762+10_1762+13delinsATTT	ENSP00000355311.2:n.1762+10_1762+13delinsATTT
ENST00000361828.6:c.1759+10_1759+13delinsATTT	ENSP00000354429.2:n.1759+10_1759+13delinsATTT
ENST00000361908.7:c.1816+10_1816+13delinsATTT	ENSP00000354681.3:n.1816+10_1816+13delinsATTT
ENST00000392438.7:c.1705+10_1705+13delinsATTT	ENSP00000376233.3:n.1705+10_1705+13delinsATTT
ENST00000483516.1:n.203+10_203+13delinsATTT
NM_015560.2:c.1705+10_1705+13delinsATTT , LRG_337t1:c.1705+10_1705+13delinsATTT	NP_056375.2:n.1705+10_1705+13delinsATTT
NM_130831.2:c.1597+10_1597+13delinsATTT	NP_570844.1:n.1597+10_1597+13delinsATTT
NM_130832.2:c.1651+10_1651+13delinsATTT	NP_570845.1:n.1651+10_1651+13delinsATTT
NM_130833.2:c.1708+10_1708+13delinsATTT	NP_570846.1:n.1708+10_1708+13delinsATTT
NM_130834.2:c.1759+10_1759+13delinsATTT	NP_570847.2:n.1759+10_1759+13delinsATTT
NM_130835.2:c.1762+10_1762+13delinsATTT	NP_570848.1:n.1762+10_1762+13delinsATTT
NM_130836.2:c.1816+10_1816+13delinsATTT	NP_570849.2:n.1816+10_1816+13delinsATTT
NM_130837.2:c.1870+10_1870+13delinsATTT , LRG_337t2:c.1870+10_1870+13delinsATTT	NP_570850.2:n.1870+10_1870+13delinsATTT
XM_011512863.1:c.1870+10_1870+13delinsATTT	XP_011511165.1:n.1870+10_1870+13delinsATTT
XM_011512864.1:c.1816+10_1816+13delinsATTT	XP_011511166.1:n.1816+10_1816+13delinsATTT
XM_011512865.1:c.1759+10_1759+13delinsATTT	XP_011511167.1:n.1759+10_1759+13delinsATTT
XM_011512866.1:c.1708+10_1708+13delinsATTT	XP_011511168.1:n.1708+10_1708+13delinsATTT
XM_011512867.1:c.1705+10_1705+13delinsATTT	XP_011511169.1:n.1705+10_1705+13delinsATTT
XM_011512868.1:c.1597+10_1597+13delinsATTT	XP_011511170.1:n.1597+10_1597+13delinsATTT
XM_011512869.1:c.1870+10_1870+13delinsATTT	XP_011511171.1:n.1870+10_1870+13delinsATTT
NM_001354663.1:c.1336+10_1336+13delinsATTT	NP_001341592.1:n.1336+10_1336+13delinsATTT
NM_001354664.1:c.1333+10_1333+13delinsATTT	NP_001341593.1:n.1333+10_1333+13delinsATTT
XR_001740158.2:n.2099+10_2099+13delinsATTT
XR_001740159.2:n.1934+10_1934+13delinsATTT
XR_001741074.1:n.593_596delinsAAAT
XR_924835.2:n.718_721delinsAAAT
NM_001354663.2:c.1336+10_1336+13delinsATTT	NP_001341592.1:n.1336+10_1336+13delinsATTT
NM_001354664.2:c.1333+10_1333+13delinsATTT	NP_001341593.1:n.1333+10_1333+13delinsATTT
NM_130831.3:c.1597+10_1597+13delinsATTT	NP_570844.1:n.1597+10_1597+13delinsATTT
NM_130832.3:c.1651+10_1651+13delinsATTT	NP_570845.1:n.1651+10_1651+13delinsATTT
NM_130834.3:c.1759+10_1759+13delinsATTT	NP_570847.2:n.1759+10_1759+13delinsATTT
NM_130836.3:c.1816+10_1816+13delinsATTT	NP_570849.2:n.1816+10_1816+13delinsATTT
NM_015560.3:c.1705+10_1705+13delinsATTT	NP_056375.2:n.1705+10_1705+13delinsATTT
NM_130833.3:c.1708+10_1708+13delinsATTT	NP_570846.1:n.1708+10_1708+13delinsATTT
NM_130835.3:c.1762+10_1762+13delinsATTT	NP_570848.1:n.1762+10_1762+13delinsATTT
NM_130837.3:c.1870+10_1870+13delinsATTT MANE Select	NP_570850.2:n.1870+10_1870+13delinsATTT