Canonical Allele Identifier: CA1430245899

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193644012_193644013delinsCT , CM000665.2:g.193644012_193644013delinsCT	GRCh38
NC_000003.11:g.193361801_193361802delinsCT , CM000665.1:g.193361801_193361802delinsCT	GRCh37
NC_000003.10:g.194844495_194844496delinsCT	NCBI36
NG_011605.1:g.55869_55870delinsCT , LRG_337:g.55869_55870delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1515_1516delinsCT MANE Select	ENSP00000355324.2:p.Asp505=
ENST00000361828.7:c.1350_1351delinsCT	ENSP00000354429.3:p.Asp450=
ENST00000361908.8:c.1461_1462delinsCT	ENSP00000354681.3:p.Asp487=
ENST00000392436.7:c.1350_1351delinsCT	ENSP00000376231.3:p.Asp450=
ENST00000392437.6:c.1404_1405delinsCT	ENSP00000376232.2:p.Asp468=
ENST00000642289.1:c.1289_1290delinsCT
ENST00000642445.1:c.1350_1351delinsCT	ENSP00000495535.1:p.Asp450=
ENST00000642593.1:c.1350_1351delinsCT	ENSP00000494273.1:p.Asp450=
ENST00000643329.1:c.1032_1033delinsCT	ENSP00000493673.1:p.Asp344=
ENST00000643737.1:c.*1431_*1432delinsCT	ENSP00000494210.1:n.*1431_*1432delinsCT
ENST00000644595.1:c.1350_1351delinsCT	ENSP00000494121.1:p.Asp450=
ENST00000644629.1:c.1010_1011delinsCT
ENST00000644841.1:c.978_979delinsCT	ENSP00000493988.1:p.Asp326=
ENST00000644959.1:c.1319_1320delinsCT
ENST00000645553.1:c.1365_1366delinsCT	ENSP00000494725.1:p.Asp455=
ENST00000646085.1:c.*828_*829delinsCT	ENSP00000494509.1:n.*828_*829delinsCT
ENST00000646277.1:c.1538_1539delinsCT	ENSP00000495289.1:p.Thr513=
ENST00000646544.1:c.338_339delinsCT
ENST00000646699.1:c.1289_1290delinsCT
ENST00000646793.1:c.1242_1243delinsCT	ENSP00000494512.1:p.Asp414=
ENST00000361150.6:c.1353_1354delinsCT	ENSP00000354781.2:p.Asp451=
ENST00000361510.6:c.1515_1516delinsCT	ENSP00000355324.2:p.Asp505=
ENST00000361715.6:c.1407_1408delinsCT	ENSP00000355311.2:p.Asp469=
ENST00000361828.6:c.1404_1405delinsCT	ENSP00000354429.2:p.Asp468=
ENST00000361908.7:c.1461_1462delinsCT	ENSP00000354681.3:p.Asp487=
ENST00000392438.7:c.1350_1351delinsCT	ENSP00000376233.3:p.Asp450=
ENST00000475899.1:n.546_547delinsCT
NM_015560.2:c.1350_1351delinsCT , LRG_337t1:c.1350_1351delinsCT	NP_056375.2:p.Asp450=
NM_130831.2:c.1242_1243delinsCT	NP_570844.1:p.Asp414=
NM_130832.2:c.1296_1297delinsCT	NP_570845.1:p.Asp432=
NM_130833.2:c.1353_1354delinsCT	NP_570846.1:p.Asp451=
NM_130834.2:c.1404_1405delinsCT	NP_570847.2:p.Asp468=
NM_130835.2:c.1407_1408delinsCT	NP_570848.1:p.Asp469=
NM_130836.2:c.1461_1462delinsCT	NP_570849.2:p.Asp487=
NM_130837.2:c.1515_1516delinsCT , LRG_337t2:c.1515_1516delinsCT	NP_570850.2:p.Asp505=
XM_011512863.1:c.1515_1516delinsCT	XP_011511165.1:p.Asp505=
XM_011512864.1:c.1461_1462delinsCT	XP_011511166.1:p.Asp487=
XM_011512865.1:c.1404_1405delinsCT	XP_011511167.1:p.Asp468=
XM_011512866.1:c.1353_1354delinsCT	XP_011511168.1:p.Asp451=
XM_011512867.1:c.1350_1351delinsCT	XP_011511169.1:p.Asp450=
XM_011512868.1:c.1242_1243delinsCT	XP_011511170.1:p.Asp414=
XM_011512869.1:c.1515_1516delinsCT	XP_011511171.1:p.Asp505=
NM_001354663.1:c.981_982delinsCT	NP_001341592.1:p.Asp327=
NM_001354664.1:c.978_979delinsCT	NP_001341593.1:p.Asp326=
XR_001740158.2:n.1744_1745delinsCT
XR_001740159.2:n.1579_1580delinsCT
NM_001354663.2:c.981_982delinsCT	NP_001341592.1:p.Asp327=
NM_001354664.2:c.978_979delinsCT	NP_001341593.1:p.Asp326=
NM_130831.3:c.1242_1243delinsCT	NP_570844.1:p.Asp414=
NM_130832.3:c.1296_1297delinsCT	NP_570845.1:p.Asp432=
NM_130834.3:c.1404_1405delinsCT	NP_570847.2:p.Asp468=
NM_130836.3:c.1461_1462delinsCT	NP_570849.2:p.Asp487=
NM_015560.3:c.1350_1351delinsCT	NP_056375.2:p.Asp450=
NM_130833.3:c.1353_1354delinsCT	NP_570846.1:p.Asp451=
NM_130835.3:c.1407_1408delinsCT	NP_570848.1:p.Asp469=
NM_130837.3:c.1515_1516delinsCT MANE Select	NP_570850.2:p.Asp505=