Canonical Allele Identifier: CA1430270379

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662562_193662563delinsCA , CM000665.2:g.193662562_193662563delinsCA	GRCh38
NC_000003.11:g.193380351_193380352delinsCA , CM000665.1:g.193380351_193380352delinsCA	GRCh37
NC_000003.10:g.194863045_194863046delinsCA	NCBI36
NG_011605.1:g.74419_74420delinsCA , LRG_337:g.74419_74420delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2521-260_2521-259delinsCA MANE Select	ENSP00000355324.2:n.2521-260_2521-259delinsCA
ENST00000361828.7:c.2356-260_2356-259delinsCA	ENSP00000354429.3:n.2356-260_2356-259delinsCA
ENST00000361908.8:c.2467-260_2467-259delinsCA	ENSP00000354681.3:n.2467-260_2467-259delinsCA
ENST00000392436.7:c.2356-260_2356-259delinsCA	ENSP00000376231.3:n.2356-260_2356-259delinsCA
ENST00000392437.6:c.2410-260_2410-259delinsCA	ENSP00000376232.2:n.2410-260_2410-259delinsCA
ENST00000642289.1:c.2295-260_2295-259delinsCA
ENST00000642445.1:c.2356-260_2356-259delinsCA	ENSP00000495535.1:n.2356-260_2356-259delinsCA
ENST00000642593.1:c.*581-260_*581-259delinsCA	ENSP00000494273.1:n.*581-260_*581-259delinsCA
ENST00000643329.1:c.2038-260_2038-259delinsCA	ENSP00000493673.1:n.2038-260_2038-259delinsCA
ENST00000643737.1:c.*2437-260_*2437-259delinsCA	ENSP00000494210.1:n.*2437-260_*2437-259delinsCA
ENST00000644595.1:c.2356-260_2356-259delinsCA	ENSP00000494121.1:n.2356-260_2356-259delinsCA
ENST00000644629.1:c.1943-260_1943-259delinsCA
ENST00000644841.1:c.*840-260_*840-259delinsCA	ENSP00000493988.1:n.*840-260_*840-259delinsCA
ENST00000644959.1:c.2350-260_2350-259delinsCA
ENST00000645553.1:c.2371-260_2371-259delinsCA	ENSP00000494725.1:n.2371-260_2371-259delinsCA
ENST00000646085.1:c.*1834-260_*1834-259delinsCA	ENSP00000494509.1:n.*1834-260_*1834-259delinsCA
ENST00000646277.1:c.*957-260_*957-259delinsCA	ENSP00000495289.1:n.*957-260_*957-259delinsCA
ENST00000646544.1:c.1344-260_1344-259delinsCA
ENST00000646699.1:c.2295-260_2295-259delinsCA
ENST00000646793.1:c.2248-260_2248-259delinsCA	ENSP00000494512.1:n.2248-260_2248-259delinsCA
ENST00000361150.6:c.2359-260_2359-259delinsCA	ENSP00000354781.2:n.2359-260_2359-259delinsCA
ENST00000361510.6:c.2521-260_2521-259delinsCA	ENSP00000355324.2:n.2521-260_2521-259delinsCA
ENST00000361715.6:c.2413-260_2413-259delinsCA	ENSP00000355311.2:n.2413-260_2413-259delinsCA
ENST00000361828.6:c.2410-260_2410-259delinsCA	ENSP00000354429.2:n.2410-260_2410-259delinsCA
ENST00000361908.7:c.2467-260_2467-259delinsCA	ENSP00000354681.3:n.2467-260_2467-259delinsCA
ENST00000392438.7:c.2356-260_2356-259delinsCA	ENSP00000376233.3:n.2356-260_2356-259delinsCA
NM_015560.2:c.2356-260_2356-259delinsCA , LRG_337t1:c.2356-260_2356-259delinsCA	NP_056375.2:n.2356-260_2356-259delinsCA
NM_130831.2:c.2248-260_2248-259delinsCA	NP_570844.1:n.2248-260_2248-259delinsCA
NM_130832.2:c.2302-260_2302-259delinsCA	NP_570845.1:n.2302-260_2302-259delinsCA
NM_130833.2:c.2359-260_2359-259delinsCA	NP_570846.1:n.2359-260_2359-259delinsCA
NM_130834.2:c.2410-260_2410-259delinsCA	NP_570847.2:n.2410-260_2410-259delinsCA
NM_130835.2:c.2413-260_2413-259delinsCA	NP_570848.1:n.2413-260_2413-259delinsCA
NM_130836.2:c.2467-260_2467-259delinsCA	NP_570849.2:n.2467-260_2467-259delinsCA
NM_130837.2:c.2521-260_2521-259delinsCA , LRG_337t2:c.2521-260_2521-259delinsCA	NP_570850.2:n.2521-260_2521-259delinsCA
XM_011512863.1:c.2521-260_2521-259delinsCA	XP_011511165.1:n.2521-260_2521-259delinsCA
XM_011512864.1:c.2467-260_2467-259delinsCA	XP_011511166.1:n.2467-260_2467-259delinsCA
XM_011512865.1:c.2410-260_2410-259delinsCA	XP_011511167.1:n.2410-260_2410-259delinsCA
XM_011512866.1:c.2359-260_2359-259delinsCA	XP_011511168.1:n.2359-260_2359-259delinsCA
XM_011512867.1:c.2356-260_2356-259delinsCA	XP_011511169.1:n.2356-260_2356-259delinsCA
XM_011512868.1:c.2248-260_2248-259delinsCA	XP_011511170.1:n.2248-260_2248-259delinsCA
XR_924835.1:n.582+6357_582+6358delinsTG
NM_001354663.1:c.1987-260_1987-259delinsCA	NP_001341592.1:n.1987-260_1987-259delinsCA
NM_001354664.1:c.1984-260_1984-259delinsCA	NP_001341593.1:n.1984-260_1984-259delinsCA
XR_001740158.2:n.2775-260_2775-259delinsCA
XR_001740159.2:n.2610-260_2610-259delinsCA
XR_001741072.1:n.601-2478_601-2477delinsTG
XR_001741074.1:n.475+8245_475+8246delinsTG
XR_924835.2:n.600+6357_600+6358delinsTG
NM_001354663.2:c.1987-260_1987-259delinsCA	NP_001341592.1:n.1987-260_1987-259delinsCA
NM_001354664.2:c.1984-260_1984-259delinsCA	NP_001341593.1:n.1984-260_1984-259delinsCA
NM_130831.3:c.2248-260_2248-259delinsCA	NP_570844.1:n.2248-260_2248-259delinsCA
NM_130832.3:c.2302-260_2302-259delinsCA	NP_570845.1:n.2302-260_2302-259delinsCA
NM_130834.3:c.2410-260_2410-259delinsCA	NP_570847.2:n.2410-260_2410-259delinsCA
NM_130836.3:c.2467-260_2467-259delinsCA	NP_570849.2:n.2467-260_2467-259delinsCA
NM_015560.3:c.2356-260_2356-259delinsCA	NP_056375.2:n.2356-260_2356-259delinsCA
NM_130833.3:c.2359-260_2359-259delinsCA	NP_570846.1:n.2359-260_2359-259delinsCA
NM_130835.3:c.2413-260_2413-259delinsCA	NP_570848.1:n.2413-260_2413-259delinsCA
NM_130837.3:c.2521-260_2521-259delinsCA MANE Select	NP_570850.2:n.2521-260_2521-259delinsCA