Canonical Allele Identifier: CA2704977627

Gene: OPA1

Linked Data

• dbSNP Id: rs2109231728

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662912_193662914del , CM000665.2:g.193662912_193662914del	GRCh38
NC_000003.11:g.193380701_193380703del , CM000665.1:g.193380701_193380703del	GRCh37
NC_000003.10:g.194863395_194863397del	NCBI36
NG_011605.1:g.74769_74771del , LRG_337:g.74769_74771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2611_2613del MANE Select	ENSP00000355324.2:p.Thr871del
ENST00000361828.7:c.2446_2448del	ENSP00000354429.3:p.Thr816del
ENST00000361908.8:c.2557_2559del	ENSP00000354681.3:p.Thr853del
ENST00000392436.7:c.2446_2448del	ENSP00000376231.3:p.Thr816del
ENST00000392437.6:c.2500_2502del	ENSP00000376232.2:p.Thr834del
ENST00000642289.1:c.2385_2387del
ENST00000642445.1:c.2446_2448del	ENSP00000495535.1:p.Thr816del
ENST00000642593.1:c.*671_*673del	ENSP00000494273.1:n.*671_*673del
ENST00000643329.1:c.2128_2130del	ENSP00000493673.1:p.Thr710del
ENST00000643737.1:c.*2527_*2529del	ENSP00000494210.1:n.*2527_*2529del
ENST00000644595.1:c.2446_2448del	ENSP00000494121.1:p.Thr816del
ENST00000644629.1:c.2033_2035del
ENST00000644841.1:c.*930_*932del	ENSP00000493988.1:n.*930_*932del
ENST00000644959.1:c.2440_2442del
ENST00000645553.1:c.2461_2463del	ENSP00000494725.1:p.Thr821del
ENST00000646085.1:c.*1924_*1926del	ENSP00000494509.1:n.*1924_*1926del
ENST00000646277.1:c.*1047_*1049del	ENSP00000495289.1:n.*1047_*1049del
ENST00000646544.1:c.1434_1436del
ENST00000646699.1:c.2385_2387del
ENST00000646793.1:c.2338_2340del	ENSP00000494512.1:p.Thr780del
ENST00000361150.6:c.2449_2451del	ENSP00000354781.2:p.Thr817del
ENST00000361510.6:c.2611_2613del	ENSP00000355324.2:p.Thr871del
ENST00000361715.6:c.2503_2505del	ENSP00000355311.2:p.Thr835del
ENST00000361828.6:c.2500_2502del	ENSP00000354429.2:p.Thr834del
ENST00000361908.7:c.2557_2559del	ENSP00000354681.3:p.Thr853del
ENST00000392438.7:c.2446_2448del	ENSP00000376233.3:p.Thr816del
ENST00000445863.1:c.22_24del	ENSP00000398358.1:p.Thr8del
NM_015560.2:c.2446_2448del , LRG_337t1:c.2446_2448del	NP_056375.2:p.Thr816del
NM_130831.2:c.2338_2340del	NP_570844.1:p.Thr780del
NM_130832.2:c.2392_2394del	NP_570845.1:p.Thr798del
NM_130833.2:c.2449_2451del	NP_570846.1:p.Thr817del
NM_130834.2:c.2500_2502del	NP_570847.2:p.Thr834del
NM_130835.2:c.2503_2505del	NP_570848.1:p.Thr835del
NM_130836.2:c.2557_2559del	NP_570849.2:p.Thr853del
NM_130837.2:c.2611_2613del , LRG_337t2:c.2611_2613del	NP_570850.2:p.Thr871del
XM_011512863.1:c.2611_2613del	XP_011511165.1:p.Thr871del
XM_011512864.1:c.2557_2559del	XP_011511166.1:p.Thr853del
XM_011512865.1:c.2500_2502del	XP_011511167.1:p.Thr834del
XM_011512866.1:c.2449_2451del	XP_011511168.1:p.Thr817del
XM_011512867.1:c.2446_2448del	XP_011511169.1:p.Thr816del
XM_011512868.1:c.2338_2340del	XP_011511170.1:p.Thr780del
XR_924835.1:n.582+6006_582+6008del
NM_001354663.1:c.2077_2079del	NP_001341592.1:p.Thr693del
NM_001354664.1:c.2074_2076del	NP_001341593.1:p.Thr692del
XR_001740158.2:n.2865_2867del
XR_001740159.2:n.2700_2702del
XR_001741072.1:n.601-2829_601-2827del
XR_001741074.1:n.475+7894_475+7896del
XR_924835.2:n.600+6006_600+6008del
NM_001354663.2:c.2077_2079del	NP_001341592.1:p.Thr693del
NM_001354664.2:c.2074_2076del	NP_001341593.1:p.Thr692del
NM_130831.3:c.2338_2340del	NP_570844.1:p.Thr780del
NM_130832.3:c.2392_2394del	NP_570845.1:p.Thr798del
NM_130834.3:c.2500_2502del	NP_570847.2:p.Thr834del
NM_130836.3:c.2557_2559del	NP_570849.2:p.Thr853del
NM_015560.3:c.2446_2448del	NP_056375.2:p.Thr816del
NM_130833.3:c.2449_2451del	NP_570846.1:p.Thr817del
NM_130835.3:c.2503_2505del	NP_570848.1:p.Thr835del
NM_130837.3:c.2611_2613del MANE Select	NP_570850.2:p.Thr871del