Canonical Allele Identifier: CA2586973459

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643606_193643622del , CM000665.2:g.193643606_193643622del	GRCh38
NC_000003.11:g.193361395_193361411del , CM000665.1:g.193361395_193361411del	GRCh37
NC_000003.10:g.194844089_194844105del	NCBI36
NG_011605.1:g.55463_55479del , LRG_337:g.55463_55479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1456_1472del MANE Select	ENSP00000355324.2:p.Ala486SerfsTer8
ENST00000361828.7:c.1291_1307del	ENSP00000354429.3:p.Ala431SerfsTer8
ENST00000361908.8:c.1402_1418del	ENSP00000354681.3:p.Ala468SerfsTer8
ENST00000392436.7:c.1291_1307del	ENSP00000376231.3:p.Ala431SerfsTer8
ENST00000392437.6:c.1345_1361del	ENSP00000376232.2:p.Ala449SerfsTer8
ENST00000642289.1:c.1230_1246del
ENST00000642445.1:c.1291_1307del	ENSP00000495535.1:p.Ala431SerfsTer8
ENST00000642593.1:c.1291_1307del	ENSP00000494273.1:p.Ala431SerfsTer8
ENST00000643329.1:c.973_989del	ENSP00000493673.1:p.Ala325SerfsTer8
ENST00000643737.1:c.*1372_*1388del	ENSP00000494210.1:n.*1372_*1388del
ENST00000644595.1:c.1291_1307del	ENSP00000494121.1:p.Ala431SerfsTer8
ENST00000644629.1:c.951_967del
ENST00000644841.1:c.919_935del	ENSP00000493988.1:p.Ala307SerfsTer8
ENST00000644959.1:c.1260_1276del
ENST00000645553.1:c.1306_1322del	ENSP00000494725.1:p.Ala436SerfsTer8
ENST00000646085.1:c.*769_*785del	ENSP00000494509.1:n.*769_*785del
ENST00000646277.1:c.1456_1472del	ENSP00000495289.1:p.Ala486SerfsTer?
ENST00000646544.1:c.279_295del
ENST00000646699.1:c.1230_1246del
ENST00000646793.1:c.1183_1199del	ENSP00000494512.1:p.Ala395SerfsTer8
ENST00000361150.6:c.1294_1310del	ENSP00000354781.2:p.Ala432SerfsTer8
ENST00000361510.6:c.1456_1472del	ENSP00000355324.2:p.Ala486SerfsTer8
ENST00000361715.6:c.1348_1364del	ENSP00000355311.2:p.Ala450SerfsTer8
ENST00000361828.6:c.1345_1361del	ENSP00000354429.2:p.Ala449SerfsTer8
ENST00000361908.7:c.1402_1418del	ENSP00000354681.3:p.Ala468SerfsTer8
ENST00000392438.7:c.1291_1307del	ENSP00000376233.3:p.Ala431SerfsTer8
ENST00000475899.1:n.487_503del
NM_015560.2:c.1291_1307del , LRG_337t1:c.1291_1307del	NP_056375.2:p.Ala431SerfsTer8
NM_130831.2:c.1183_1199del	NP_570844.1:p.Ala395SerfsTer8
NM_130832.2:c.1237_1253del	NP_570845.1:p.Ala413SerfsTer8
NM_130833.2:c.1294_1310del	NP_570846.1:p.Ala432SerfsTer8
NM_130834.2:c.1345_1361del	NP_570847.2:p.Ala449SerfsTer8
NM_130835.2:c.1348_1364del	NP_570848.1:p.Ala450SerfsTer8
NM_130836.2:c.1402_1418del	NP_570849.2:p.Ala468SerfsTer8
NM_130837.2:c.1456_1472del , LRG_337t2:c.1456_1472del	NP_570850.2:p.Ala486SerfsTer8
XM_011512863.1:c.1456_1472del	XP_011511165.1:p.Ala486SerfsTer8
XM_011512864.1:c.1402_1418del	XP_011511166.1:p.Ala468SerfsTer8
XM_011512865.1:c.1345_1361del	XP_011511167.1:p.Ala449SerfsTer8
XM_011512866.1:c.1294_1310del	XP_011511168.1:p.Ala432SerfsTer8
XM_011512867.1:c.1291_1307del	XP_011511169.1:p.Ala431SerfsTer8
XM_011512868.1:c.1183_1199del	XP_011511170.1:p.Ala395SerfsTer8
XM_011512869.1:c.1456_1472del	XP_011511171.1:p.Ala486SerfsTer8
NM_001354663.1:c.922_938del	NP_001341592.1:p.Ala308SerfsTer8
NM_001354664.1:c.919_935del	NP_001341593.1:p.Ala307SerfsTer8
XR_001740158.2:n.1685_1701del
XR_001740159.2:n.1520_1536del
NM_001354663.2:c.922_938del	NP_001341592.1:p.Ala308SerfsTer8
NM_001354664.2:c.919_935del	NP_001341593.1:p.Ala307SerfsTer8
NM_130831.3:c.1183_1199del	NP_570844.1:p.Ala395SerfsTer8
NM_130832.3:c.1237_1253del	NP_570845.1:p.Ala413SerfsTer8
NM_130834.3:c.1345_1361del	NP_570847.2:p.Ala449SerfsTer8
NM_130836.3:c.1402_1418del	NP_570849.2:p.Ala468SerfsTer8
NM_015560.3:c.1291_1307del	NP_056375.2:p.Ala431SerfsTer8
NM_130833.3:c.1294_1310del	NP_570846.1:p.Ala432SerfsTer8
NM_130835.3:c.1348_1364del	NP_570848.1:p.Ala450SerfsTer8
NM_130837.3:c.1456_1472del MANE Select	NP_570850.2:p.Ala486SerfsTer8