Canonical Allele Identifier: CA1430270477
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193662674_193662678delinsGTTCT , CM000665.2:g.193662674_193662678delinsGTTCT GRCh38
NC_000003.11:g.193380463_193380467delinsGTTCT , CM000665.1:g.193380463_193380467delinsGTTCT GRCh37
NC_000003.10:g.194863157_194863161delinsGTTCT NCBI36
NG_011605.1:g.74531_74535delinsGTTCT , LRG_337:g.74531_74535delinsGTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2521-148_2521-144delinsGTTCT MANE Select ENSP00000355324.2:n.2521-148_2521-144delinsGTTCT
ENST00000361828.7:c.2356-148_2356-144delinsGTTCT ENSP00000354429.3:n.2356-148_2356-144delinsGTTCT
ENST00000361908.8:c.2467-148_2467-144delinsGTTCT ENSP00000354681.3:n.2467-148_2467-144delinsGTTCT
ENST00000392436.7:c.2356-148_2356-144delinsGTTCT ENSP00000376231.3:n.2356-148_2356-144delinsGTTCT
ENST00000392437.6:c.2410-148_2410-144delinsGTTCT ENSP00000376232.2:n.2410-148_2410-144delinsGTTCT
ENST00000642289.1:c.2295-148_2295-144delinsGTTCT
ENST00000642445.1:c.2356-148_2356-144delinsGTTCT ENSP00000495535.1:n.2356-148_2356-144delinsGTTCT
ENST00000642593.1:c.*581-148_*581-144delinsGTTCT ENSP00000494273.1:n.*581-148_*581-144delinsGTTCT
ENST00000643329.1:c.2038-148_2038-144delinsGTTCT ENSP00000493673.1:n.2038-148_2038-144delinsGTTCT
ENST00000643737.1:c.*2437-148_*2437-144delinsGTTCT ENSP00000494210.1:n.*2437-148_*2437-144delinsGTTCT
ENST00000644595.1:c.2356-148_2356-144delinsGTTCT ENSP00000494121.1:n.2356-148_2356-144delinsGTTCT
ENST00000644629.1:c.1943-148_1943-144delinsGTTCT
ENST00000644841.1:c.*840-148_*840-144delinsGTTCT ENSP00000493988.1:n.*840-148_*840-144delinsGTTCT
ENST00000644959.1:c.2350-148_2350-144delinsGTTCT
ENST00000645553.1:c.2371-148_2371-144delinsGTTCT ENSP00000494725.1:n.2371-148_2371-144delinsGTTCT
ENST00000646085.1:c.*1834-148_*1834-144delinsGTTCT ENSP00000494509.1:n.*1834-148_*1834-144delinsGTTCT
ENST00000646277.1:c.*957-148_*957-144delinsGTTCT ENSP00000495289.1:n.*957-148_*957-144delinsGTTCT
ENST00000646544.1:c.1344-148_1344-144delinsGTTCT
ENST00000646699.1:c.2295-148_2295-144delinsGTTCT
ENST00000646793.1:c.2248-148_2248-144delinsGTTCT ENSP00000494512.1:n.2248-148_2248-144delinsGTTCT
ENST00000361150.6:c.2359-148_2359-144delinsGTTCT ENSP00000354781.2:n.2359-148_2359-144delinsGTTCT
ENST00000361510.6:c.2521-148_2521-144delinsGTTCT ENSP00000355324.2:n.2521-148_2521-144delinsGTTCT
ENST00000361715.6:c.2413-148_2413-144delinsGTTCT ENSP00000355311.2:n.2413-148_2413-144delinsGTTCT
ENST00000361828.6:c.2410-148_2410-144delinsGTTCT ENSP00000354429.2:n.2410-148_2410-144delinsGTTCT
ENST00000361908.7:c.2467-148_2467-144delinsGTTCT ENSP00000354681.3:n.2467-148_2467-144delinsGTTCT
ENST00000392438.7:c.2356-148_2356-144delinsGTTCT ENSP00000376233.3:n.2356-148_2356-144delinsGTTCT
NM_015560.2:c.2356-148_2356-144delinsGTTCT , LRG_337t1:c.2356-148_2356-144delinsGTTCT NP_056375.2:n.2356-148_2356-144delinsGTTCT
NM_130831.2:c.2248-148_2248-144delinsGTTCT NP_570844.1:n.2248-148_2248-144delinsGTTCT
NM_130832.2:c.2302-148_2302-144delinsGTTCT NP_570845.1:n.2302-148_2302-144delinsGTTCT
NM_130833.2:c.2359-148_2359-144delinsGTTCT NP_570846.1:n.2359-148_2359-144delinsGTTCT
NM_130834.2:c.2410-148_2410-144delinsGTTCT NP_570847.2:n.2410-148_2410-144delinsGTTCT
NM_130835.2:c.2413-148_2413-144delinsGTTCT NP_570848.1:n.2413-148_2413-144delinsGTTCT
NM_130836.2:c.2467-148_2467-144delinsGTTCT NP_570849.2:n.2467-148_2467-144delinsGTTCT
NM_130837.2:c.2521-148_2521-144delinsGTTCT , LRG_337t2:c.2521-148_2521-144delinsGTTCT NP_570850.2:n.2521-148_2521-144delinsGTTCT
XM_011512863.1:c.2521-148_2521-144delinsGTTCT XP_011511165.1:n.2521-148_2521-144delinsGTTCT
XM_011512864.1:c.2467-148_2467-144delinsGTTCT XP_011511166.1:n.2467-148_2467-144delinsGTTCT
XM_011512865.1:c.2410-148_2410-144delinsGTTCT XP_011511167.1:n.2410-148_2410-144delinsGTTCT
XM_011512866.1:c.2359-148_2359-144delinsGTTCT XP_011511168.1:n.2359-148_2359-144delinsGTTCT
XM_011512867.1:c.2356-148_2356-144delinsGTTCT XP_011511169.1:n.2356-148_2356-144delinsGTTCT
XM_011512868.1:c.2248-148_2248-144delinsGTTCT XP_011511170.1:n.2248-148_2248-144delinsGTTCT
XR_924835.1:n.582+6242_582+6246delinsAGAAC
NM_001354663.1:c.1987-148_1987-144delinsGTTCT NP_001341592.1:n.1987-148_1987-144delinsGTTCT
NM_001354664.1:c.1984-148_1984-144delinsGTTCT NP_001341593.1:n.1984-148_1984-144delinsGTTCT
XR_001740158.2:n.2775-148_2775-144delinsGTTCT
XR_001740159.2:n.2610-148_2610-144delinsGTTCT
XR_001741072.1:n.601-2593_601-2589delinsAGAAC
XR_001741074.1:n.475+8130_475+8134delinsAGAAC
XR_924835.2:n.600+6242_600+6246delinsAGAAC
NM_001354663.2:c.1987-148_1987-144delinsGTTCT NP_001341592.1:n.1987-148_1987-144delinsGTTCT
NM_001354664.2:c.1984-148_1984-144delinsGTTCT NP_001341593.1:n.1984-148_1984-144delinsGTTCT
NM_130831.3:c.2248-148_2248-144delinsGTTCT NP_570844.1:n.2248-148_2248-144delinsGTTCT
NM_130832.3:c.2302-148_2302-144delinsGTTCT NP_570845.1:n.2302-148_2302-144delinsGTTCT
NM_130834.3:c.2410-148_2410-144delinsGTTCT NP_570847.2:n.2410-148_2410-144delinsGTTCT
NM_130836.3:c.2467-148_2467-144delinsGTTCT NP_570849.2:n.2467-148_2467-144delinsGTTCT
NM_015560.3:c.2356-148_2356-144delinsGTTCT NP_056375.2:n.2356-148_2356-144delinsGTTCT
NM_130833.3:c.2359-148_2359-144delinsGTTCT NP_570846.1:n.2359-148_2359-144delinsGTTCT
NM_130835.3:c.2413-148_2413-144delinsGTTCT NP_570848.1:n.2413-148_2413-144delinsGTTCT
NM_130837.3:c.2521-148_2521-144delinsGTTCT MANE Select NP_570850.2:n.2521-148_2521-144delinsGTTCT