Canonical Allele Identifier: CA10575490
Gene: OPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193692069_193692072del , CM000665.2:g.193692069_193692072del GRCh38
NC_000003.11:g.193409858_193409861del , CM000665.1:g.193409858_193409861del GRCh37
NC_000003.10:g.194892552_194892555del NCBI36
NG_011605.1:g.103926_103929del , LRG_337:g.103926_103929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.2990_2993del MANE Select ENSP00000355324.2:p.Val997GlufsTer25
ENST00000361828.7:c.2825_2828del ENSP00000354429.3:p.Val942GlufsTer25
ENST00000361908.8:c.2936_2939del ENSP00000354681.3:p.Val979GlufsTer25
ENST00000392437.6:c.2879_2882del ENSP00000376232.2:p.Val960GlufsTer25
ENST00000642289.1:c.2764_2767del
ENST00000642445.1:c.*76_*79del ENSP00000495535.1:n.*76_*79del
ENST00000642593.1:c.*1050_*1053del ENSP00000494273.1:n.*1050_*1053del
ENST00000643329.1:c.2507_2510del ENSP00000493673.1:p.Val836GlufsTer25
ENST00000643737.1:c.*2906_*2909del ENSP00000494210.1:n.*2906_*2909del
ENST00000644595.1:c.*35_*38del ENSP00000494121.1:n.*35_*38del
ENST00000644629.1:c.2412_2415del
ENST00000644841.1:c.*1309_*1312del ENSP00000493988.1:n.*1309_*1312del
ENST00000644959.1:c.2819_2822del
ENST00000645553.1:c.2840_2843del ENSP00000494725.1:p.Val947GlufsTer25
ENST00000646085.1:c.*2303_*2306del ENSP00000494509.1:n.*2303_*2306del
ENST00000646277.1:c.*1426_*1429del ENSP00000495289.1:n.*1426_*1429del
ENST00000646544.1:c.1813_1816del
ENST00000646699.1:c.2764_2767del
ENST00000646793.1:c.2717_2720del ENSP00000494512.1:p.Val906GlufsTer25
ENST00000361150.6:c.2828_2831del ENSP00000354781.2:p.Val943GlufsTer25
ENST00000361510.6:c.2990_2993del ENSP00000355324.2:p.Val997GlufsTer25
ENST00000361715.6:c.2882_2885del ENSP00000355311.2:p.Val961GlufsTer25
ENST00000361828.6:c.2879_2882del ENSP00000354429.2:p.Val960GlufsTer25
ENST00000361908.7:c.2936_2939del ENSP00000354681.3:p.Val979GlufsTer25
ENST00000392438.7:c.2825_2828del ENSP00000376233.3:p.Val942GlufsTer25
ENST00000495261.1:n.676_679del
NM_015560.2:c.2825_2828del , LRG_337t1:c.2825_2828del NP_056375.2:p.Val942GlufsTer25
NM_130831.2:c.2717_2720del NP_570844.1:p.Val906GlufsTer25
NM_130832.2:c.2771_2774del NP_570845.1:p.Val924GlufsTer25
NM_130833.2:c.2828_2831del NP_570846.1:p.Val943GlufsTer25
NM_130834.2:c.2879_2882del NP_570847.2:p.Val960GlufsTer25
NM_130835.2:c.2882_2885del NP_570848.1:p.Val961GlufsTer25
NM_130836.2:c.2936_2939del NP_570849.2:p.Val979GlufsTer25
NM_130837.2:c.2990_2993del , LRG_337t2:c.2990_2993del NP_570850.2:p.Val997GlufsTer25
NM_001354663.1:c.2456_2459del NP_001341592.1:p.Val819GlufsTer25
NM_001354664.1:c.2453_2456del NP_001341593.1:p.Val818GlufsTer25
XR_001740158.2:n.3244_3247del
XR_001740159.2:n.3079_3082del
NM_001354663.2:c.2456_2459del NP_001341592.1:p.Val819GlufsTer25
NM_001354664.2:c.2453_2456del NP_001341593.1:p.Val818GlufsTer25
NM_130831.3:c.2717_2720del NP_570844.1:p.Val906GlufsTer25
NM_130832.3:c.2771_2774del NP_570845.1:p.Val924GlufsTer25
NM_130834.3:c.2879_2882del NP_570847.2:p.Val960GlufsTer25
NM_130836.3:c.2936_2939del NP_570849.2:p.Val979GlufsTer25
NM_015560.3:c.2825_2828del NP_056375.2:p.Val942GlufsTer25
NM_130833.3:c.2828_2831del NP_570846.1:p.Val943GlufsTer25
NM_130835.3:c.2882_2885del NP_570848.1:p.Val961GlufsTer25
NM_130837.3:c.2990_2993del MANE Select NP_570850.2:p.Val997GlufsTer25