Canonical Allele Identifier: CA2577995046

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643431del , CM000665.2:g.193643431del	GRCh38
NC_000003.11:g.193361220del , CM000665.1:g.193361220del	GRCh37
NC_000003.10:g.194843914del	NCBI36
NG_011605.1:g.55288del , LRG_337:g.55288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1364del MANE Select	ENSP00000355324.2:p.Pro455GlnfsTer3
ENST00000361828.7:c.1199del	ENSP00000354429.3:p.Pro400GlnfsTer3
ENST00000361908.8:c.1310del	ENSP00000354681.3:p.Pro437GlnfsTer3
ENST00000392436.7:c.1199del	ENSP00000376231.3:p.Pro400GlnfsTer3
ENST00000392437.6:c.1253del	ENSP00000376232.2:p.Pro418GlnfsTer3
ENST00000642289.1:c.1138del
ENST00000642445.1:c.1199del	ENSP00000495535.1:p.Pro400GlnfsTer3
ENST00000642593.1:c.1199del	ENSP00000494273.1:p.Pro400GlnfsTer3
ENST00000643329.1:c.881del	ENSP00000493673.1:p.Pro294GlnfsTer3
ENST00000643737.1:c.*1280del	ENSP00000494210.1:n.*1280del
ENST00000644595.1:c.1199del	ENSP00000494121.1:p.Pro400GlnfsTer3
ENST00000644629.1:c.859del
ENST00000644841.1:c.827del	ENSP00000493988.1:p.Pro276GlnfsTer3
ENST00000644959.1:c.1168del
ENST00000645553.1:c.1214del	ENSP00000494725.1:p.Pro405GlnfsTer3
ENST00000646085.1:c.*677del	ENSP00000494509.1:n.*677del
ENST00000646277.1:c.1364del	ENSP00000495289.1:p.Pro455GlnfsTer3
ENST00000646544.1:c.187del
ENST00000646699.1:c.1138del
ENST00000646793.1:c.1091del	ENSP00000494512.1:p.Pro364GlnfsTer3
ENST00000361150.6:c.1202del	ENSP00000354781.2:p.Pro401GlnfsTer3
ENST00000361510.6:c.1364del	ENSP00000355324.2:p.Pro455GlnfsTer3
ENST00000361715.6:c.1256del	ENSP00000355311.2:p.Pro419GlnfsTer3
ENST00000361828.6:c.1253del	ENSP00000354429.2:p.Pro418GlnfsTer3
ENST00000361908.7:c.1310del	ENSP00000354681.3:p.Pro437GlnfsTer3
ENST00000392438.7:c.1199del	ENSP00000376233.3:p.Pro400GlnfsTer3
ENST00000475899.1:n.395del
NM_015560.2:c.1199del , LRG_337t1:c.1199del	NP_056375.2:p.Pro400GlnfsTer3
NM_130831.2:c.1091del	NP_570844.1:p.Pro364GlnfsTer3
NM_130832.2:c.1145del	NP_570845.1:p.Pro382GlnfsTer3
NM_130833.2:c.1202del	NP_570846.1:p.Pro401GlnfsTer3
NM_130834.2:c.1253del	NP_570847.2:p.Pro418GlnfsTer3
NM_130835.2:c.1256del	NP_570848.1:p.Pro419GlnfsTer3
NM_130836.2:c.1310del	NP_570849.2:p.Pro437GlnfsTer3
NM_130837.2:c.1364del , LRG_337t2:c.1364del	NP_570850.2:p.Pro455GlnfsTer3
XM_011512863.1:c.1364del	XP_011511165.1:p.Pro455GlnfsTer3
XM_011512864.1:c.1310del	XP_011511166.1:p.Pro437GlnfsTer3
XM_011512865.1:c.1253del	XP_011511167.1:p.Pro418GlnfsTer3
XM_011512866.1:c.1202del	XP_011511168.1:p.Pro401GlnfsTer3
XM_011512867.1:c.1199del	XP_011511169.1:p.Pro400GlnfsTer3
XM_011512868.1:c.1091del	XP_011511170.1:p.Pro364GlnfsTer3
XM_011512869.1:c.1364del	XP_011511171.1:p.Pro455GlnfsTer3
NM_001354663.1:c.830del	NP_001341592.1:p.Pro277GlnfsTer3
NM_001354664.1:c.827del	NP_001341593.1:p.Pro276GlnfsTer3
XR_001740158.2:n.1593del
XR_001740159.2:n.1428del
NM_001354663.2:c.830del	NP_001341592.1:p.Pro277GlnfsTer3
NM_001354664.2:c.827del	NP_001341593.1:p.Pro276GlnfsTer3
NM_130831.3:c.1091del	NP_570844.1:p.Pro364GlnfsTer3
NM_130832.3:c.1145del	NP_570845.1:p.Pro382GlnfsTer3
NM_130834.3:c.1253del	NP_570847.2:p.Pro418GlnfsTer3
NM_130836.3:c.1310del	NP_570849.2:p.Pro437GlnfsTer3
NM_015560.3:c.1199del	NP_056375.2:p.Pro400GlnfsTer3
NM_130833.3:c.1202del	NP_570846.1:p.Pro401GlnfsTer3
NM_130835.3:c.1256del	NP_570848.1:p.Pro419GlnfsTer3
NM_130837.3:c.1364del MANE Select	NP_570850.2:p.Pro455GlnfsTer3