Canonical Allele Identifier: CA2586973388

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667249_193667256del , CM000665.2:g.193667249_193667256del	GRCh38
NC_000003.11:g.193385038_193385045del , CM000665.1:g.193385038_193385045del	GRCh37
NC_000003.10:g.194867732_194867739del	NCBI36
NG_011605.1:g.79106_79113del , LRG_337:g.79106_79113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2952_2959del MANE Select	ENSP00000355324.2:p.Gly985ArgfsTer11
ENST00000361828.7:c.2787_2794del	ENSP00000354429.3:p.Gly930ArgfsTer11
ENST00000361908.8:c.2898_2905del	ENSP00000354681.3:p.Gly967ArgfsTer11
ENST00000392436.7:c.2787_2794del	ENSP00000376231.3:p.Gly930ArgfsTer?
ENST00000392437.6:c.2841_2848del	ENSP00000376232.2:p.Gly948ArgfsTer11
ENST00000642289.1:c.2726_2733del
ENST00000642445.1:c.2787_2794del	ENSP00000495535.1:p.Gly930ArgfsTer?
ENST00000642593.1:c.*1012_*1019del	ENSP00000494273.1:n.*1012_*1019del
ENST00000643329.1:c.2469_2476del	ENSP00000493673.1:p.Gly824ArgfsTer11
ENST00000643737.1:c.*2868_*2875del	ENSP00000494210.1:n.*2868_*2875del
ENST00000644595.1:c.2787_2794del	ENSP00000494121.1:p.Gly930ArgfsTer16
ENST00000644629.1:c.2374_2381del
ENST00000644841.1:c.*1271_*1278del	ENSP00000493988.1:n.*1271_*1278del
ENST00000644959.1:c.2781_2788del
ENST00000645553.1:c.2802_2809del	ENSP00000494725.1:p.Gly935ArgfsTer11
ENST00000646085.1:c.*2265_*2272del	ENSP00000494509.1:n.*2265_*2272del
ENST00000646277.1:c.*1388_*1395del	ENSP00000495289.1:n.*1388_*1395del
ENST00000646544.1:c.1775_1782del
ENST00000646699.1:c.2726_2733del
ENST00000646793.1:c.2679_2686del	ENSP00000494512.1:p.Gly894ArgfsTer11
ENST00000361150.6:c.2790_2797del	ENSP00000354781.2:p.Gly931ArgfsTer11
ENST00000361510.6:c.2952_2959del	ENSP00000355324.2:p.Gly985ArgfsTer11
ENST00000361715.6:c.2844_2851del	ENSP00000355311.2:p.Gly949ArgfsTer11
ENST00000361828.6:c.2841_2848del	ENSP00000354429.2:p.Gly948ArgfsTer11
ENST00000361908.7:c.2898_2905del	ENSP00000354681.3:p.Gly967ArgfsTer11
ENST00000392438.7:c.2787_2794del	ENSP00000376233.3:p.Gly930ArgfsTer11
ENST00000429164.1:c.74_81del
ENST00000445863.1:c.363_370del	ENSP00000398358.1:p.Gly122ArgfsTer23
NM_015560.2:c.2787_2794del , LRG_337t1:c.2787_2794del	NP_056375.2:p.Gly930ArgfsTer11
NM_130831.2:c.2679_2686del	NP_570844.1:p.Gly894ArgfsTer11
NM_130832.2:c.2733_2740del	NP_570845.1:p.Gly912ArgfsTer11
NM_130833.2:c.2790_2797del	NP_570846.1:p.Gly931ArgfsTer11
NM_130834.2:c.2841_2848del	NP_570847.2:p.Gly948ArgfsTer11
NM_130835.2:c.2844_2851del	NP_570848.1:p.Gly949ArgfsTer11
NM_130836.2:c.2898_2905del	NP_570849.2:p.Gly967ArgfsTer11
NM_130837.2:c.2952_2959del , LRG_337t2:c.2952_2959del	NP_570850.2:p.Gly985ArgfsTer11
XM_011512863.1:c.2952_2959del	XP_011511165.1:p.Gly985ArgfsTer15
XM_011512864.1:c.2898_2905del	XP_011511166.1:p.Gly967ArgfsTer15
XM_011512865.1:c.2841_2848del	XP_011511167.1:p.Gly948ArgfsTer15
XM_011512866.1:c.2790_2797del	XP_011511168.1:p.Gly931ArgfsTer15
XM_011512867.1:c.2787_2794del	XP_011511169.1:p.Gly930ArgfsTer15
XM_011512868.1:c.2679_2686del	XP_011511170.1:p.Gly894ArgfsTer15
XR_924835.1:n.582+1666_582+1673del
NM_001354663.1:c.2418_2425del	NP_001341592.1:p.Gly807ArgfsTer11
NM_001354664.1:c.2415_2422del	NP_001341593.1:p.Gly806ArgfsTer11
XR_001740158.2:n.3206_3213del
XR_001740159.2:n.3041_3048del
XR_001741072.1:n.600+1666_600+1673del
XR_001741074.1:n.475+3554_475+3561del
XR_924835.2:n.600+1666_600+1673del
NM_001354663.2:c.2418_2425del	NP_001341592.1:p.Gly807ArgfsTer11
NM_001354664.2:c.2415_2422del	NP_001341593.1:p.Gly806ArgfsTer11
NM_130831.3:c.2679_2686del	NP_570844.1:p.Gly894ArgfsTer11
NM_130832.3:c.2733_2740del	NP_570845.1:p.Gly912ArgfsTer11
NM_130834.3:c.2841_2848del	NP_570847.2:p.Gly948ArgfsTer11
NM_130836.3:c.2898_2905del	NP_570849.2:p.Gly967ArgfsTer11
NM_015560.3:c.2787_2794del	NP_056375.2:p.Gly930ArgfsTer11
NM_130833.3:c.2790_2797del	NP_570846.1:p.Gly931ArgfsTer11
NM_130835.3:c.2844_2851del	NP_570848.1:p.Gly949ArgfsTer11
NM_130837.3:c.2952_2959del MANE Select	NP_570850.2:p.Gly985ArgfsTer11