Canonical Allele Identifier: CA2586973430

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638056del , CM000665.2:g.193638056del	GRCh38
NC_000003.11:g.193355845del , CM000665.1:g.193355845del	GRCh37
NC_000003.10:g.194838539del	NCBI36
NG_011605.1:g.49913del , LRG_337:g.49913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1140del MANE Select	ENSP00000355324.2:p.Pro381GlnfsTer4
ENST00000361828.7:c.975del	ENSP00000354429.3:p.Pro326GlnfsTer4
ENST00000361908.8:c.1086del	ENSP00000354681.3:p.Pro363GlnfsTer4
ENST00000392436.7:c.975del	ENSP00000376231.3:p.Pro326GlnfsTer4
ENST00000392437.6:c.1029del	ENSP00000376232.2:p.Pro344GlnfsTer4
ENST00000642289.1:c.1070del
ENST00000642445.1:c.975del	ENSP00000495535.1:p.Pro326GlnfsTer4
ENST00000642593.1:c.975del	ENSP00000494273.1:p.Pro326GlnfsTer4
ENST00000643329.1:c.657del	ENSP00000493673.1:p.Pro220GlnfsTer4
ENST00000643737.1:c.*1056del	ENSP00000494210.1:n.*1056del
ENST00000644595.1:c.975del	ENSP00000494121.1:p.Pro326GlnfsTer4
ENST00000644629.1:c.635del
ENST00000644841.1:c.603del	ENSP00000493988.1:p.Pro202GlnfsTer4
ENST00000644959.1:c.944del
ENST00000645553.1:c.990del	ENSP00000494725.1:p.Pro331GlnfsTer4
ENST00000646085.1:c.*453del	ENSP00000494509.1:n.*453del
ENST00000646277.1:c.1140del	ENSP00000495289.1:p.Pro381GlnfsTer4
ENST00000646544.1:c.38del
ENST00000646699.1:c.1070del
ENST00000646793.1:c.867del	ENSP00000494512.1:p.Pro290GlnfsTer4
ENST00000361150.6:c.978del	ENSP00000354781.2:p.Pro327GlnfsTer4
ENST00000361510.6:c.1140del	ENSP00000355324.2:p.Pro381GlnfsTer4
ENST00000361715.6:c.1032del	ENSP00000355311.2:p.Pro345GlnfsTer4
ENST00000361828.6:c.1029del	ENSP00000354429.2:p.Pro344GlnfsTer4
ENST00000361908.7:c.1086del	ENSP00000354681.3:p.Pro363GlnfsTer4
ENST00000392438.7:c.975del	ENSP00000376233.3:p.Pro326GlnfsTer4
ENST00000475899.1:n.171del
ENST00000497189.5:n.461del
NM_015560.2:c.975del , LRG_337t1:c.975del	NP_056375.2:p.Pro326GlnfsTer4
NM_130831.2:c.867del	NP_570844.1:p.Pro290GlnfsTer4
NM_130832.2:c.921del	NP_570845.1:p.Pro308GlnfsTer4
NM_130833.2:c.978del	NP_570846.1:p.Pro327GlnfsTer4
NM_130834.2:c.1029del	NP_570847.2:p.Pro344GlnfsTer4
NM_130835.2:c.1032del	NP_570848.1:p.Pro345GlnfsTer4
NM_130836.2:c.1086del	NP_570849.2:p.Pro363GlnfsTer4
NM_130837.2:c.1140del , LRG_337t2:c.1140del	NP_570850.2:p.Pro381GlnfsTer4
XM_011512863.1:c.1140del	XP_011511165.1:p.Pro381GlnfsTer4
XM_011512864.1:c.1086del	XP_011511166.1:p.Pro363GlnfsTer4
XM_011512865.1:c.1029del	XP_011511167.1:p.Pro344GlnfsTer4
XM_011512866.1:c.978del	XP_011511168.1:p.Pro327GlnfsTer4
XM_011512867.1:c.975del	XP_011511169.1:p.Pro326GlnfsTer4
XM_011512868.1:c.867del	XP_011511170.1:p.Pro290GlnfsTer4
XM_011512869.1:c.1140del	XP_011511171.1:p.Pro381GlnfsTer4
NM_001354663.1:c.606del	NP_001341592.1:p.Pro203GlnfsTer4
NM_001354664.1:c.603del	NP_001341593.1:p.Pro202GlnfsTer4
XR_001740158.2:n.1369del
XR_001740159.2:n.1204del
NM_001354663.2:c.606del	NP_001341592.1:p.Pro203GlnfsTer4
NM_001354664.2:c.603del	NP_001341593.1:p.Pro202GlnfsTer4
NM_130831.3:c.867del	NP_570844.1:p.Pro290GlnfsTer4
NM_130832.3:c.921del	NP_570845.1:p.Pro308GlnfsTer4
NM_130834.3:c.1029del	NP_570847.2:p.Pro344GlnfsTer4
NM_130836.3:c.1086del	NP_570849.2:p.Pro363GlnfsTer4
NM_015560.3:c.975del	NP_056375.2:p.Pro326GlnfsTer4
NM_130833.3:c.978del	NP_570846.1:p.Pro327GlnfsTer4
NM_130835.3:c.1032del	NP_570848.1:p.Pro345GlnfsTer4
NM_130837.3:c.1140del MANE Select	NP_570850.2:p.Pro381GlnfsTer4