Canonical Allele Identifier: CA2669103989
Gene: OPA1 HGNC NCBI

Linked Data

gnomAD v4: 3-193662714-TTG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193662718_193662719del , CM000665.2:g.193662718_193662719del GRCh38
NC_000003.11:g.193380507_193380508del , CM000665.1:g.193380507_193380508del GRCh37
NC_000003.10:g.194863201_194863202del NCBI36
NG_011605.1:g.74575_74576del , LRG_337:g.74575_74576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2521-104_2521-103del MANE Select ENSP00000355324.2:n.2521-104_2521-103del
ENST00000361828.7:c.2356-104_2356-103del ENSP00000354429.3:n.2356-104_2356-103del
ENST00000361908.8:c.2467-104_2467-103del ENSP00000354681.3:n.2467-104_2467-103del
ENST00000392436.7:c.2356-104_2356-103del ENSP00000376231.3:n.2356-104_2356-103del
ENST00000392437.6:c.2410-104_2410-103del ENSP00000376232.2:n.2410-104_2410-103del
ENST00000642289.1:c.2295-104_2295-103del
ENST00000642445.1:c.2356-104_2356-103del ENSP00000495535.1:n.2356-104_2356-103del
ENST00000642593.1:c.*581-104_*581-103del ENSP00000494273.1:n.*581-104_*581-103del
ENST00000643329.1:c.2038-104_2038-103del ENSP00000493673.1:n.2038-104_2038-103del
ENST00000643737.1:c.*2437-104_*2437-103del ENSP00000494210.1:n.*2437-104_*2437-103del
ENST00000644595.1:c.2356-104_2356-103del ENSP00000494121.1:n.2356-104_2356-103del
ENST00000644629.1:c.1943-104_1943-103del
ENST00000644841.1:c.*840-104_*840-103del ENSP00000493988.1:n.*840-104_*840-103del
ENST00000644959.1:c.2350-104_2350-103del
ENST00000645553.1:c.2371-104_2371-103del ENSP00000494725.1:n.2371-104_2371-103del
ENST00000646085.1:c.*1834-104_*1834-103del ENSP00000494509.1:n.*1834-104_*1834-103del
ENST00000646277.1:c.*957-104_*957-103del ENSP00000495289.1:n.*957-104_*957-103del
ENST00000646544.1:c.1344-104_1344-103del
ENST00000646699.1:c.2295-104_2295-103del
ENST00000646793.1:c.2248-104_2248-103del ENSP00000494512.1:n.2248-104_2248-103del
ENST00000361150.6:c.2359-104_2359-103del ENSP00000354781.2:n.2359-104_2359-103del
ENST00000361510.6:c.2521-104_2521-103del ENSP00000355324.2:n.2521-104_2521-103del
ENST00000361715.6:c.2413-104_2413-103del ENSP00000355311.2:n.2413-104_2413-103del
ENST00000361828.6:c.2410-104_2410-103del ENSP00000354429.2:n.2410-104_2410-103del
ENST00000361908.7:c.2467-104_2467-103del ENSP00000354681.3:n.2467-104_2467-103del
ENST00000392438.7:c.2356-104_2356-103del ENSP00000376233.3:n.2356-104_2356-103del
NM_015560.2:c.2356-104_2356-103del , LRG_337t1:c.2356-104_2356-103del NP_056375.2:n.2356-104_2356-103del
NM_130831.2:c.2248-104_2248-103del NP_570844.1:n.2248-104_2248-103del
NM_130832.2:c.2302-104_2302-103del NP_570845.1:n.2302-104_2302-103del
NM_130833.2:c.2359-104_2359-103del NP_570846.1:n.2359-104_2359-103del
NM_130834.2:c.2410-104_2410-103del NP_570847.2:n.2410-104_2410-103del
NM_130835.2:c.2413-104_2413-103del NP_570848.1:n.2413-104_2413-103del
NM_130836.2:c.2467-104_2467-103del NP_570849.2:n.2467-104_2467-103del
NM_130837.2:c.2521-104_2521-103del , LRG_337t2:c.2521-104_2521-103del NP_570850.2:n.2521-104_2521-103del
XM_011512863.1:c.2521-104_2521-103del XP_011511165.1:n.2521-104_2521-103del
XM_011512864.1:c.2467-104_2467-103del XP_011511166.1:n.2467-104_2467-103del
XM_011512865.1:c.2410-104_2410-103del XP_011511167.1:n.2410-104_2410-103del
XM_011512866.1:c.2359-104_2359-103del XP_011511168.1:n.2359-104_2359-103del
XM_011512867.1:c.2356-104_2356-103del XP_011511169.1:n.2356-104_2356-103del
XM_011512868.1:c.2248-104_2248-103del XP_011511170.1:n.2248-104_2248-103del
XR_924835.1:n.582+6204_582+6205del
NM_001354663.1:c.1987-104_1987-103del NP_001341592.1:n.1987-104_1987-103del
NM_001354664.1:c.1984-104_1984-103del NP_001341593.1:n.1984-104_1984-103del
XR_001740158.2:n.2775-104_2775-103del
XR_001740159.2:n.2610-104_2610-103del
XR_001741072.1:n.601-2631_601-2630del
XR_001741074.1:n.475+8092_475+8093del
XR_924835.2:n.600+6204_600+6205del
NM_001354663.2:c.1987-104_1987-103del NP_001341592.1:n.1987-104_1987-103del
NM_001354664.2:c.1984-104_1984-103del NP_001341593.1:n.1984-104_1984-103del
NM_130831.3:c.2248-104_2248-103del NP_570844.1:n.2248-104_2248-103del
NM_130832.3:c.2302-104_2302-103del NP_570845.1:n.2302-104_2302-103del
NM_130834.3:c.2410-104_2410-103del NP_570847.2:n.2410-104_2410-103del
NM_130836.3:c.2467-104_2467-103del NP_570849.2:n.2467-104_2467-103del
NM_015560.3:c.2356-104_2356-103del NP_056375.2:n.2356-104_2356-103del
NM_130833.3:c.2359-104_2359-103del NP_570846.1:n.2359-104_2359-103del
NM_130835.3:c.2413-104_2413-103del NP_570848.1:n.2413-104_2413-103del
NM_130837.3:c.2521-104_2521-103del MANE Select NP_570850.2:n.2521-104_2521-103del
Search 100 bp 5'
Search 100 bp 3'