Canonical Allele Identifier: CA2586973361

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662948del , CM000665.2:g.193662948del	GRCh38
NC_000003.11:g.193380737del , CM000665.1:g.193380737del	GRCh37
NC_000003.10:g.194863431del	NCBI36
NG_011605.1:g.74805del , LRG_337:g.74805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2647del MANE Select	ENSP00000355324.2:p.Val883Ter
ENST00000361828.7:c.2482del	ENSP00000354429.3:p.Val828Ter
ENST00000361908.8:c.2593del	ENSP00000354681.3:p.Val865Ter
ENST00000392436.7:c.2482del	ENSP00000376231.3:p.Val828Ter
ENST00000392437.6:c.2536del	ENSP00000376232.2:p.Val846Ter
ENST00000642289.1:c.2421del
ENST00000642445.1:c.2482del	ENSP00000495535.1:p.Val828Ter
ENST00000642593.1:c.*707del	ENSP00000494273.1:n.*707del
ENST00000643329.1:c.2164del	ENSP00000493673.1:p.Val722Ter
ENST00000643737.1:c.*2563del	ENSP00000494210.1:n.*2563del
ENST00000644595.1:c.2482del	ENSP00000494121.1:p.Val828Ter
ENST00000644629.1:c.2069del
ENST00000644841.1:c.*966del	ENSP00000493988.1:n.*966del
ENST00000644959.1:c.2476del
ENST00000645553.1:c.2497del	ENSP00000494725.1:p.Val833Ter
ENST00000646085.1:c.*1960del	ENSP00000494509.1:n.*1960del
ENST00000646277.1:c.*1083del	ENSP00000495289.1:n.*1083del
ENST00000646544.1:c.1470del
ENST00000646699.1:c.2421del
ENST00000646793.1:c.2374del	ENSP00000494512.1:p.Val792Ter
ENST00000361150.6:c.2485del	ENSP00000354781.2:p.Val829Ter
ENST00000361510.6:c.2647del	ENSP00000355324.2:p.Val883Ter
ENST00000361715.6:c.2539del	ENSP00000355311.2:p.Val847Ter
ENST00000361828.6:c.2536del	ENSP00000354429.2:p.Val846Ter
ENST00000361908.7:c.2593del	ENSP00000354681.3:p.Val865Ter
ENST00000392438.7:c.2482del	ENSP00000376233.3:p.Val828Ter
ENST00000445863.1:c.58del	ENSP00000398358.1:p.Val20Ter
NM_015560.2:c.2482del , LRG_337t1:c.2482del	NP_056375.2:p.Val828Ter
NM_130831.2:c.2374del	NP_570844.1:p.Val792Ter
NM_130832.2:c.2428del	NP_570845.1:p.Val810Ter
NM_130833.2:c.2485del	NP_570846.1:p.Val829Ter
NM_130834.2:c.2536del	NP_570847.2:p.Val846Ter
NM_130835.2:c.2539del	NP_570848.1:p.Val847Ter
NM_130836.2:c.2593del	NP_570849.2:p.Val865Ter
NM_130837.2:c.2647del , LRG_337t2:c.2647del	NP_570850.2:p.Val883Ter
XM_011512863.1:c.2647del	XP_011511165.1:p.Val883Ter
XM_011512864.1:c.2593del	XP_011511166.1:p.Val865Ter
XM_011512865.1:c.2536del	XP_011511167.1:p.Val846Ter
XM_011512866.1:c.2485del	XP_011511168.1:p.Val829Ter
XM_011512867.1:c.2482del	XP_011511169.1:p.Val828Ter
XM_011512868.1:c.2374del	XP_011511170.1:p.Val792Ter
XR_924835.1:n.582+5972del
NM_001354663.1:c.2113del	NP_001341592.1:p.Val705Ter
NM_001354664.1:c.2110del	NP_001341593.1:p.Val704Ter
XR_001740158.2:n.2901del
XR_001740159.2:n.2736del
XR_001741072.1:n.601-2863del
XR_001741074.1:n.475+7860del
XR_924835.2:n.600+5972del
NM_001354663.2:c.2113del	NP_001341592.1:p.Val705Ter
NM_001354664.2:c.2110del	NP_001341593.1:p.Val704Ter
NM_130831.3:c.2374del	NP_570844.1:p.Val792Ter
NM_130832.3:c.2428del	NP_570845.1:p.Val810Ter
NM_130834.3:c.2536del	NP_570847.2:p.Val846Ter
NM_130836.3:c.2593del	NP_570849.2:p.Val865Ter
NM_015560.3:c.2482del	NP_056375.2:p.Val828Ter
NM_130833.3:c.2485del	NP_570846.1:p.Val829Ter
NM_130835.3:c.2539del	NP_570848.1:p.Val847Ter
NM_130837.3:c.2647del MANE Select	NP_570850.2:p.Val883Ter