Canonical Allele Identifier: CA437441960

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193384989_193384993delTATTG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667200_193667204del , CM000665.2:g.193667200_193667204del	GRCh38
NC_000003.11:g.193384989_193384993del , CM000665.1:g.193384989_193384993del	GRCh37
NC_000003.10:g.194867683_194867687del	NCBI36
NG_011605.1:g.79057_79061del , LRG_337:g.79057_79061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2903_2907del MANE Select	ENSP00000355324.2:p.Val968GlyfsTer5
ENST00000361828.7:c.2738_2742del	ENSP00000354429.3:p.Val913GlyfsTer5
ENST00000361908.8:c.2849_2853del	ENSP00000354681.3:p.Val950GlyfsTer5
ENST00000392436.7:c.2738_2742del	ENSP00000376231.3:p.Val913GlyfsTer5
ENST00000392437.6:c.2792_2796del	ENSP00000376232.2:p.Val931GlyfsTer5
ENST00000642289.1:c.2677_2681del
ENST00000642445.1:c.2738_2742del	ENSP00000495535.1:p.Val913GlyfsTer5
ENST00000642593.1:c.*963_*967del	ENSP00000494273.1:n.*963_*967del
ENST00000643329.1:c.2420_2424del	ENSP00000493673.1:p.Val807GlyfsTer5
ENST00000643737.1:c.*2819_*2823del	ENSP00000494210.1:n.*2819_*2823del
ENST00000644595.1:c.2738_2742del	ENSP00000494121.1:p.Val913GlyfsTer5
ENST00000644629.1:c.2325_2329del
ENST00000644841.1:c.*1222_*1226del	ENSP00000493988.1:n.*1222_*1226del
ENST00000644959.1:c.2732_2736del
ENST00000645553.1:c.2753_2757del	ENSP00000494725.1:p.Val918GlyfsTer5
ENST00000646085.1:c.*2216_*2220del	ENSP00000494509.1:n.*2216_*2220del
ENST00000646277.1:c.*1339_*1343del	ENSP00000495289.1:n.*1339_*1343del
ENST00000646544.1:c.1726_1730del
ENST00000646699.1:c.2677_2681del
ENST00000646793.1:c.2630_2634del	ENSP00000494512.1:p.Val877GlyfsTer5
ENST00000361150.6:c.2741_2745del	ENSP00000354781.2:p.Val914GlyfsTer5
ENST00000361510.6:c.2903_2907del	ENSP00000355324.2:p.Val968GlyfsTer5
ENST00000361715.6:c.2795_2799del	ENSP00000355311.2:p.Val932GlyfsTer5
ENST00000361828.6:c.2792_2796del	ENSP00000354429.2:p.Val931GlyfsTer5
ENST00000361908.7:c.2849_2853del	ENSP00000354681.3:p.Val950GlyfsTer5
ENST00000392438.7:c.2738_2742del	ENSP00000376233.3:p.Val913GlyfsTer5
ENST00000429164.1:c.25_29del
ENST00000445863.1:c.314_318del	ENSP00000398358.1:p.Val105GlyfsTer5
NM_015560.2:c.2738_2742del , LRG_337t1:c.2738_2742del	NP_056375.2:p.Val913GlyfsTer5
NM_130831.2:c.2630_2634del	NP_570844.1:p.Val877GlyfsTer5
NM_130832.2:c.2684_2688del	NP_570845.1:p.Val895GlyfsTer5
NM_130833.2:c.2741_2745del	NP_570846.1:p.Val914GlyfsTer5
NM_130834.2:c.2792_2796del	NP_570847.2:p.Val931GlyfsTer5
NM_130835.2:c.2795_2799del	NP_570848.1:p.Val932GlyfsTer5
NM_130836.2:c.2849_2853del	NP_570849.2:p.Val950GlyfsTer5
NM_130837.2:c.2903_2907del , LRG_337t2:c.2903_2907del	NP_570850.2:p.Val968GlyfsTer5
XM_011512863.1:c.2903_2907del	XP_011511165.1:p.Val968GlyfsTer5
XM_011512864.1:c.2849_2853del	XP_011511166.1:p.Val950GlyfsTer5
XM_011512865.1:c.2792_2796del	XP_011511167.1:p.Val931GlyfsTer5
XM_011512866.1:c.2741_2745del	XP_011511168.1:p.Val914GlyfsTer5
XM_011512867.1:c.2738_2742del	XP_011511169.1:p.Val913GlyfsTer5
XM_011512868.1:c.2630_2634del	XP_011511170.1:p.Val877GlyfsTer5
XR_924835.1:n.582+1717_582+1721del
NM_001354663.1:c.2369_2373del	NP_001341592.1:p.Val790GlyfsTer5
NM_001354664.1:c.2366_2370del	NP_001341593.1:p.Val789GlyfsTer5
XR_001740158.2:n.3157_3161del
XR_001740159.2:n.2992_2996del
XR_001741072.1:n.600+1717_600+1721del
XR_001741074.1:n.475+3605_475+3609del
XR_924835.2:n.600+1717_600+1721del
NM_001354663.2:c.2369_2373del	NP_001341592.1:p.Val790GlyfsTer5
NM_001354664.2:c.2366_2370del	NP_001341593.1:p.Val789GlyfsTer5
NM_130831.3:c.2630_2634del	NP_570844.1:p.Val877GlyfsTer5
NM_130832.3:c.2684_2688del	NP_570845.1:p.Val895GlyfsTer5
NM_130834.3:c.2792_2796del	NP_570847.2:p.Val931GlyfsTer5
NM_130836.3:c.2849_2853del	NP_570849.2:p.Val950GlyfsTer5
NM_015560.3:c.2738_2742del	NP_056375.2:p.Val913GlyfsTer5
NM_130833.3:c.2741_2745del	NP_570846.1:p.Val914GlyfsTer5
NM_130835.3:c.2795_2799del	NP_570848.1:p.Val932GlyfsTer5
NM_130837.3:c.2903_2907del MANE Select	NP_570850.2:p.Val968GlyfsTer5