Canonical Allele Identifier: CA1430250855

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647218_193647223delinsCATTTT , CM000665.2:g.193647218_193647223delinsCATTTT	GRCh38
NC_000003.11:g.193365007_193365012delinsCATTTT , CM000665.1:g.193365007_193365012delinsCATTTT	GRCh37
NC_000003.10:g.194847701_194847706delinsCATTTT	NCBI36
NG_011605.1:g.59075_59080delinsCATTTT , LRG_337:g.59075_59080delinsCATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1870+38_1870+43delinsCATTTT MANE Select	ENSP00000355324.2:n.1870+38_1870+43delinsCATTTT
ENST00000361828.7:c.1705+38_1705+43delinsCATTTT	ENSP00000354429.3:n.1705+38_1705+43delinsCATTTT
ENST00000361908.8:c.1816+38_1816+43delinsCATTTT	ENSP00000354681.3:n.1816+38_1816+43delinsCATTTT
ENST00000392436.7:c.1705+38_1705+43delinsCATTTT	ENSP00000376231.3:n.1705+38_1705+43delinsCATTTT
ENST00000392437.6:c.1759+38_1759+43delinsCATTTT	ENSP00000376232.2:n.1759+38_1759+43delinsCATTTT
ENST00000642289.1:c.1644+38_1644+43delinsCATTTT
ENST00000642445.1:c.1705+38_1705+43delinsCATTTT	ENSP00000495535.1:n.1705+38_1705+43delinsCATTTT
ENST00000642593.1:c.1705+38_1705+43delinsCATTTT	ENSP00000494273.1:n.1705+38_1705+43delinsCATTTT
ENST00000643329.1:c.1387+38_1387+43delinsCATTTT	ENSP00000493673.1:n.1387+38_1387+43delinsCATTTT
ENST00000643737.1:c.*1786+38_*1786+43delinsCATTTT	ENSP00000494210.1:n.*1786+38_*1786+43delinsCATTTT
ENST00000644595.1:c.1705+38_1705+43delinsCATTTT	ENSP00000494121.1:n.1705+38_1705+43delinsCATTTT
ENST00000644629.1:c.1292+38_1292+43delinsCATTTT
ENST00000644841.1:c.*189+38_*189+43delinsCATTTT	ENSP00000493988.1:n.*189+38_*189+43delinsCATTTT
ENST00000644959.1:c.1674+38_1674+43delinsCATTTT
ENST00000645553.1:c.1720+38_1720+43delinsCATTTT	ENSP00000494725.1:n.1720+38_1720+43delinsCATTTT
ENST00000646085.1:c.*1183+38_*1183+43delinsCATTTT	ENSP00000494509.1:n.*1183+38_*1183+43delinsCATTTT
ENST00000646277.1:c.*306+38_*306+43delinsCATTTT	ENSP00000495289.1:n.*306+38_*306+43delinsCATTTT
ENST00000646544.1:c.693+38_693+43delinsCATTTT
ENST00000646699.1:c.1644+38_1644+43delinsCATTTT
ENST00000646793.1:c.1597+38_1597+43delinsCATTTT	ENSP00000494512.1:n.1597+38_1597+43delinsCATTTT
ENST00000361150.6:c.1708+38_1708+43delinsCATTTT	ENSP00000354781.2:n.1708+38_1708+43delinsCATTTT
ENST00000361510.6:c.1870+38_1870+43delinsCATTTT	ENSP00000355324.2:n.1870+38_1870+43delinsCATTTT
ENST00000361715.6:c.1762+38_1762+43delinsCATTTT	ENSP00000355311.2:n.1762+38_1762+43delinsCATTTT
ENST00000361828.6:c.1759+38_1759+43delinsCATTTT	ENSP00000354429.2:n.1759+38_1759+43delinsCATTTT
ENST00000361908.7:c.1816+38_1816+43delinsCATTTT	ENSP00000354681.3:n.1816+38_1816+43delinsCATTTT
ENST00000392438.7:c.1705+38_1705+43delinsCATTTT	ENSP00000376233.3:n.1705+38_1705+43delinsCATTTT
ENST00000483516.1:n.203+38_203+43delinsCATTTT
NM_015560.2:c.1705+38_1705+43delinsCATTTT , LRG_337t1:c.1705+38_1705+43delinsCATTTT	NP_056375.2:n.1705+38_1705+43delinsCATTTT
NM_130831.2:c.1597+38_1597+43delinsCATTTT	NP_570844.1:n.1597+38_1597+43delinsCATTTT
NM_130832.2:c.1651+38_1651+43delinsCATTTT	NP_570845.1:n.1651+38_1651+43delinsCATTTT
NM_130833.2:c.1708+38_1708+43delinsCATTTT	NP_570846.1:n.1708+38_1708+43delinsCATTTT
NM_130834.2:c.1759+38_1759+43delinsCATTTT	NP_570847.2:n.1759+38_1759+43delinsCATTTT
NM_130835.2:c.1762+38_1762+43delinsCATTTT	NP_570848.1:n.1762+38_1762+43delinsCATTTT
NM_130836.2:c.1816+38_1816+43delinsCATTTT	NP_570849.2:n.1816+38_1816+43delinsCATTTT
NM_130837.2:c.1870+38_1870+43delinsCATTTT , LRG_337t2:c.1870+38_1870+43delinsCATTTT	NP_570850.2:n.1870+38_1870+43delinsCATTTT
XM_011512863.1:c.1870+38_1870+43delinsCATTTT	XP_011511165.1:n.1870+38_1870+43delinsCATTTT
XM_011512864.1:c.1816+38_1816+43delinsCATTTT	XP_011511166.1:n.1816+38_1816+43delinsCATTTT
XM_011512865.1:c.1759+38_1759+43delinsCATTTT	XP_011511167.1:n.1759+38_1759+43delinsCATTTT
XM_011512866.1:c.1708+38_1708+43delinsCATTTT	XP_011511168.1:n.1708+38_1708+43delinsCATTTT
XM_011512867.1:c.1705+38_1705+43delinsCATTTT	XP_011511169.1:n.1705+38_1705+43delinsCATTTT
XM_011512868.1:c.1597+38_1597+43delinsCATTTT	XP_011511170.1:n.1597+38_1597+43delinsCATTTT
XM_011512869.1:c.1870+38_1870+43delinsCATTTT	XP_011511171.1:n.1870+38_1870+43delinsCATTTT
XR_924835.1:n.670_675delinsAAAATG
NM_001354663.1:c.1336+38_1336+43delinsCATTTT	NP_001341592.1:n.1336+38_1336+43delinsCATTTT
NM_001354664.1:c.1333+38_1333+43delinsCATTTT	NP_001341593.1:n.1333+38_1333+43delinsCATTTT
XR_001740158.2:n.2099+38_2099+43delinsCATTTT
XR_001740159.2:n.1934+38_1934+43delinsCATTTT
XR_001741074.1:n.563_568delinsAAAATG
XR_924835.2:n.688_693delinsAAAATG
NM_001354663.2:c.1336+38_1336+43delinsCATTTT	NP_001341592.1:n.1336+38_1336+43delinsCATTTT
NM_001354664.2:c.1333+38_1333+43delinsCATTTT	NP_001341593.1:n.1333+38_1333+43delinsCATTTT
NM_130831.3:c.1597+38_1597+43delinsCATTTT	NP_570844.1:n.1597+38_1597+43delinsCATTTT
NM_130832.3:c.1651+38_1651+43delinsCATTTT	NP_570845.1:n.1651+38_1651+43delinsCATTTT
NM_130834.3:c.1759+38_1759+43delinsCATTTT	NP_570847.2:n.1759+38_1759+43delinsCATTTT
NM_130836.3:c.1816+38_1816+43delinsCATTTT	NP_570849.2:n.1816+38_1816+43delinsCATTTT
NM_015560.3:c.1705+38_1705+43delinsCATTTT	NP_056375.2:n.1705+38_1705+43delinsCATTTT
NM_130833.3:c.1708+38_1708+43delinsCATTTT	NP_570846.1:n.1708+38_1708+43delinsCATTTT
NM_130835.3:c.1762+38_1762+43delinsCATTTT	NP_570848.1:n.1762+38_1762+43delinsCATTTT
NM_130837.3:c.1870+38_1870+43delinsCATTTT MANE Select	NP_570850.2:n.1870+38_1870+43delinsCATTTT