Canonical Allele Identifier: CA1139771259

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638018_193638019delinsGA , CM000665.2:g.193638018_193638019delinsGA	GRCh38
NC_000003.11:g.193355807_193355808delinsGA , CM000665.1:g.193355807_193355808delinsGA	GRCh37
NC_000003.10:g.194838501_194838502delinsGA	NCBI36
NG_011605.1:g.49875_49876delinsGA , LRG_337:g.49875_49876delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1102_1103delinsGA MANE Select	ENSP00000355324.2:p.Ile368Glu
ENST00000361828.7:c.937_938delinsGA	ENSP00000354429.3:p.Ile313Glu
ENST00000361908.8:c.1048_1049delinsGA	ENSP00000354681.3:p.Ile350Glu
ENST00000392436.7:c.937_938delinsGA	ENSP00000376231.3:p.Ile313Glu
ENST00000392437.6:c.991_992delinsGA	ENSP00000376232.2:p.Ile331Glu
ENST00000642289.1:c.1032_1033delinsGA
ENST00000642445.1:c.937_938delinsGA	ENSP00000495535.1:p.Ile313Glu
ENST00000642593.1:c.937_938delinsGA	ENSP00000494273.1:p.Ile313Glu
ENST00000643329.1:c.619_620delinsGA	ENSP00000493673.1:p.Ile207Glu
ENST00000643737.1:c.*1018_*1019delinsGA	ENSP00000494210.1:n.*1018_*1019delinsGA
ENST00000644595.1:c.937_938delinsGA	ENSP00000494121.1:p.Ile313Glu
ENST00000644629.1:c.597_598delinsGA
ENST00000644841.1:c.565_566delinsGA	ENSP00000493988.1:p.Ile189Glu
ENST00000644959.1:c.906_907delinsGA
ENST00000645553.1:c.952_953delinsGA	ENSP00000494725.1:p.Ile318Glu
ENST00000646085.1:c.*415_*416delinsGA	ENSP00000494509.1:n.*415_*416delinsGA
ENST00000646277.1:c.1102_1103delinsGA	ENSP00000495289.1:p.Ile368Glu
ENST00000646699.1:c.1032_1033delinsGA
ENST00000646793.1:c.829_830delinsGA	ENSP00000494512.1:p.Ile277Glu
ENST00000361150.6:c.940_941delinsGA	ENSP00000354781.2:p.Ile314Glu
ENST00000361510.6:c.1102_1103delinsGA	ENSP00000355324.2:p.Ile368Glu
ENST00000361715.6:c.994_995delinsGA	ENSP00000355311.2:p.Ile332Glu
ENST00000361828.6:c.991_992delinsGA	ENSP00000354429.2:p.Ile331Glu
ENST00000361908.7:c.1048_1049delinsGA	ENSP00000354681.3:p.Ile350Glu
ENST00000392438.7:c.937_938delinsGA	ENSP00000376233.3:p.Ile313Glu
ENST00000475899.1:n.133_134delinsGA
ENST00000495476.1:n.458_459delinsGA
ENST00000497189.5:n.423_424delinsGA
NM_015560.2:c.937_938delinsGA , LRG_337t1:c.937_938delinsGA	NP_056375.2:p.Ile313Glu
NM_130831.2:c.829_830delinsGA	NP_570844.1:p.Ile277Glu
NM_130832.2:c.883_884delinsGA	NP_570845.1:p.Ile295Glu
NM_130833.2:c.940_941delinsGA	NP_570846.1:p.Ile314Glu
NM_130834.2:c.991_992delinsGA	NP_570847.2:p.Ile331Glu
NM_130835.2:c.994_995delinsGA	NP_570848.1:p.Ile332Glu
NM_130836.2:c.1048_1049delinsGA	NP_570849.2:p.Ile350Glu
NM_130837.2:c.1102_1103delinsGA , LRG_337t2:c.1102_1103delinsGA	NP_570850.2:p.Ile368Glu
XM_011512863.1:c.1102_1103delinsGA	XP_011511165.1:p.Ile368Glu
XM_011512864.1:c.1048_1049delinsGA	XP_011511166.1:p.Ile350Glu
XM_011512865.1:c.991_992delinsGA	XP_011511167.1:p.Ile331Glu
XM_011512866.1:c.940_941delinsGA	XP_011511168.1:p.Ile314Glu
XM_011512867.1:c.937_938delinsGA	XP_011511169.1:p.Ile313Glu
XM_011512868.1:c.829_830delinsGA	XP_011511170.1:p.Ile277Glu
XM_011512869.1:c.1102_1103delinsGA	XP_011511171.1:p.Ile368Glu
NM_001354663.1:c.568_569delinsGA	NP_001341592.1:p.Ile190Glu
NM_001354664.1:c.565_566delinsGA	NP_001341593.1:p.Ile189Glu
XR_001740158.2:n.1331_1332delinsGA
XR_001740159.2:n.1166_1167delinsGA
NM_001354663.2:c.568_569delinsGA	NP_001341592.1:p.Ile190Glu
NM_001354664.2:c.565_566delinsGA	NP_001341593.1:p.Ile189Glu
NM_130831.3:c.829_830delinsGA	NP_570844.1:p.Ile277Glu
NM_130832.3:c.883_884delinsGA	NP_570845.1:p.Ile295Glu
NM_130834.3:c.991_992delinsGA	NP_570847.2:p.Ile331Glu
NM_130836.3:c.1048_1049delinsGA	NP_570849.2:p.Ile350Glu
NM_015560.3:c.937_938delinsGA	NP_056375.2:p.Ile313Glu
NM_130833.3:c.940_941delinsGA	NP_570846.1:p.Ile314Glu
NM_130835.3:c.994_995delinsGA	NP_570848.1:p.Ile332Glu
NM_130837.3:c.1102_1103delinsGA MANE Select	NP_570850.2:p.Ile368Glu