Canonical Allele Identifier: CA1139655819

Gene: OPA1

Linked Data

• ClinVar Variation Id: 987284
• ClinVar RCV Id: RCV001268602
• dbSNP Id: rs1716781226

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667259_193667263del , CM000665.2:g.193667259_193667263del	GRCh38
NC_000003.11:g.193385048_193385052del , CM000665.1:g.193385048_193385052del	GRCh37
NC_000003.10:g.194867742_194867746del	NCBI36
NG_011605.1:g.79116_79120del , LRG_337:g.79116_79120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2962_2966del MANE Select	ENSP00000355324.2:p.Val988ThrfsTer9
ENST00000361828.7:c.2797_2801del	ENSP00000354429.3:p.Val933ThrfsTer9
ENST00000361908.8:c.2908_2912del	ENSP00000354681.3:p.Val970ThrfsTer9
ENST00000392436.7:c.2797_2801del	ENSP00000376231.3:p.Val933ThrfsTer30
ENST00000392437.6:c.2851_2855del	ENSP00000376232.2:p.Val951ThrfsTer9
ENST00000642289.1:c.2736_2740del
ENST00000642445.1:c.2797_2801del	ENSP00000495535.1:p.Val933ThrfsTer30
ENST00000642593.1:c.*1022_*1026del	ENSP00000494273.1:n.*1022_*1026del
ENST00000643329.1:c.2479_2483del	ENSP00000493673.1:p.Val827ThrfsTer9
ENST00000643737.1:c.*2878_*2882del	ENSP00000494210.1:n.*2878_*2882del
ENST00000644595.1:c.2797_2801del	ENSP00000494121.1:p.Val933ThrfsTer14
ENST00000644629.1:c.2384_2388del
ENST00000644841.1:c.*1281_*1285del	ENSP00000493988.1:n.*1281_*1285del
ENST00000644959.1:c.2791_2795del
ENST00000645553.1:c.2812_2816del	ENSP00000494725.1:p.Val938ThrfsTer9
ENST00000646085.1:c.*2275_*2279del	ENSP00000494509.1:n.*2275_*2279del
ENST00000646277.1:c.*1398_*1402del	ENSP00000495289.1:n.*1398_*1402del
ENST00000646544.1:c.1785_1789del
ENST00000646699.1:c.2736_2740del
ENST00000646793.1:c.2689_2693del	ENSP00000494512.1:p.Val897ThrfsTer9
ENST00000361150.6:c.2800_2804del	ENSP00000354781.2:p.Val934ThrfsTer9
ENST00000361510.6:c.2962_2966del	ENSP00000355324.2:p.Val988ThrfsTer9
ENST00000361715.6:c.2854_2858del	ENSP00000355311.2:p.Val952ThrfsTer9
ENST00000361828.6:c.2851_2855del	ENSP00000354429.2:p.Val951ThrfsTer9
ENST00000361908.7:c.2908_2912del	ENSP00000354681.3:p.Val970ThrfsTer9
ENST00000392438.7:c.2797_2801del	ENSP00000376233.3:p.Val933ThrfsTer9
ENST00000429164.1:c.84_88del
ENST00000445863.1:c.373_377del	ENSP00000398358.1:p.Val125ThrfsTer21
NM_015560.2:c.2797_2801del , LRG_337t1:c.2797_2801del	NP_056375.2:p.Val933ThrfsTer9
NM_130831.2:c.2689_2693del	NP_570844.1:p.Val897ThrfsTer9
NM_130832.2:c.2743_2747del	NP_570845.1:p.Val915ThrfsTer9
NM_130833.2:c.2800_2804del	NP_570846.1:p.Val934ThrfsTer9
NM_130834.2:c.2851_2855del	NP_570847.2:p.Val951ThrfsTer9
NM_130835.2:c.2854_2858del	NP_570848.1:p.Val952ThrfsTer9
NM_130836.2:c.2908_2912del	NP_570849.2:p.Val970ThrfsTer9
NM_130837.2:c.2962_2966del , LRG_337t2:c.2962_2966del	NP_570850.2:p.Val988ThrfsTer9
XM_011512863.1:c.2962_2966del	XP_011511165.1:p.Val988ThrfsTer13
XM_011512864.1:c.2908_2912del	XP_011511166.1:p.Val970ThrfsTer13
XM_011512865.1:c.2851_2855del	XP_011511167.1:p.Val951ThrfsTer13
XM_011512866.1:c.2800_2804del	XP_011511168.1:p.Val934ThrfsTer13
XM_011512867.1:c.2797_2801del	XP_011511169.1:p.Val933ThrfsTer13
XM_011512868.1:c.2689_2693del	XP_011511170.1:p.Val897ThrfsTer13
XR_924835.1:n.582+1657_582+1661del
NM_001354663.1:c.2428_2432del	NP_001341592.1:p.Val810ThrfsTer9
NM_001354664.1:c.2425_2429del	NP_001341593.1:p.Val809ThrfsTer9
XR_001740158.2:n.3216_3220del
XR_001740159.2:n.3051_3055del
XR_001741072.1:n.600+1657_600+1661del
XR_001741074.1:n.475+3545_475+3549del
XR_924835.2:n.600+1657_600+1661del
NM_001354663.2:c.2428_2432del	NP_001341592.1:p.Val810ThrfsTer9
NM_001354664.2:c.2425_2429del	NP_001341593.1:p.Val809ThrfsTer9
NM_130831.3:c.2689_2693del	NP_570844.1:p.Val897ThrfsTer9
NM_130832.3:c.2743_2747del	NP_570845.1:p.Val915ThrfsTer9
NM_130834.3:c.2851_2855del	NP_570847.2:p.Val951ThrfsTer9
NM_130836.3:c.2908_2912del	NP_570849.2:p.Val970ThrfsTer9
NM_015560.3:c.2797_2801del	NP_056375.2:p.Val933ThrfsTer9
NM_130833.3:c.2800_2804del	NP_570846.1:p.Val934ThrfsTer9
NM_130835.3:c.2854_2858del	NP_570848.1:p.Val952ThrfsTer9
NM_130837.3:c.2962_2966del MANE Select	NP_570850.2:p.Val988ThrfsTer9