Canonical Allele Identifier: CA2669104841

Gene: OPA1

Linked Data

• gnomAD v4: 3-193667268-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667269del , CM000665.2:g.193667269del	GRCh38
NC_000003.11:g.193385058del , CM000665.1:g.193385058del	GRCh37
NC_000003.10:g.194867752del	NCBI36
NG_011605.1:g.79126del , LRG_337:g.79126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2972del MANE Select	ENSP00000355324.2:p.Ala991GlyfsTer?
ENST00000361828.7:c.2807del	ENSP00000354429.3:p.Ala936GlyfsTer?
ENST00000361908.8:c.2918del	ENSP00000354681.3:p.Ala973GlyfsTer?
ENST00000392436.7:c.2807del	ENSP00000376231.3:p.Ala936GlyfsTer?
ENST00000392437.6:c.2861del	ENSP00000376232.2:p.Ala954GlyfsTer?
ENST00000642289.1:c.2746del
ENST00000642445.1:c.2807del	ENSP00000495535.1:p.Ala936GlyfsTer?
ENST00000642593.1:c.*1032del	ENSP00000494273.1:n.*1032del
ENST00000643329.1:c.2489del	ENSP00000493673.1:p.Ala830GlyfsTer?
ENST00000643737.1:c.*2888del	ENSP00000494210.1:n.*2888del
ENST00000644595.1:c.2807del	ENSP00000494121.1:p.Ala936GlyfsTer6
ENST00000644629.1:c.2394del
ENST00000644841.1:c.*1291del	ENSP00000493988.1:n.*1291del
ENST00000644959.1:c.2801del
ENST00000645553.1:c.2822del	ENSP00000494725.1:p.Ala941GlyfsTer?
ENST00000646085.1:c.*2285del	ENSP00000494509.1:n.*2285del
ENST00000646277.1:c.*1408del	ENSP00000495289.1:n.*1408del
ENST00000646544.1:c.1795del
ENST00000646699.1:c.2746del
ENST00000646793.1:c.2699del	ENSP00000494512.1:p.Ala900GlyfsTer?
ENST00000361150.6:c.2810del	ENSP00000354781.2:p.Ala937GlyfsTer?
ENST00000361510.6:c.2972del	ENSP00000355324.2:p.Ala991GlyfsTer?
ENST00000361715.6:c.2864del	ENSP00000355311.2:p.Ala955GlyfsTer?
ENST00000361828.6:c.2861del	ENSP00000354429.2:p.Ala954GlyfsTer?
ENST00000361908.7:c.2918del	ENSP00000354681.3:p.Ala973GlyfsTer?
ENST00000392438.7:c.2807del	ENSP00000376233.3:p.Ala936GlyfsTer?
ENST00000429164.1:c.94del
ENST00000445863.1:c.383del	ENSP00000398358.1:p.Ala128GlyfsTer12
NM_015560.2:c.2807del , LRG_337t1:c.2807del	NP_056375.2:p.Ala936GlyfsTer?
NM_130831.2:c.2699del	NP_570844.1:p.Ala900GlyfsTer?
NM_130832.2:c.2753del	NP_570845.1:p.Ala918GlyfsTer?
NM_130833.2:c.2810del	NP_570846.1:p.Ala937GlyfsTer?
NM_130834.2:c.2861del	NP_570847.2:p.Ala954GlyfsTer?
NM_130835.2:c.2864del	NP_570848.1:p.Ala955GlyfsTer?
NM_130836.2:c.2918del	NP_570849.2:p.Ala973GlyfsTer?
NM_130837.2:c.2972del , LRG_337t2:c.2972del	NP_570850.2:p.Ala991GlyfsTer?
XM_011512863.1:c.2972del	XP_011511165.1:p.Ala991GlyfsTer5
XM_011512864.1:c.2918del	XP_011511166.1:p.Ala973GlyfsTer5
XM_011512865.1:c.2861del	XP_011511167.1:p.Ala954GlyfsTer5
XM_011512866.1:c.2810del	XP_011511168.1:p.Ala937GlyfsTer5
XM_011512867.1:c.2807del	XP_011511169.1:p.Ala936GlyfsTer5
XM_011512868.1:c.2699del	XP_011511170.1:p.Ala900GlyfsTer5
XR_924835.1:n.582+1651del
NM_001354663.1:c.2438del	NP_001341592.1:p.Ala813GlyfsTer?
NM_001354664.1:c.2435del	NP_001341593.1:p.Ala812GlyfsTer?
XR_001740158.2:n.3226del
XR_001740159.2:n.3061del
XR_001741072.1:n.600+1651del
XR_001741074.1:n.475+3539del
XR_924835.2:n.600+1651del
NM_001354663.2:c.2438del	NP_001341592.1:p.Ala813GlyfsTer?
NM_001354664.2:c.2435del	NP_001341593.1:p.Ala812GlyfsTer?
NM_130831.3:c.2699del	NP_570844.1:p.Ala900GlyfsTer?
NM_130832.3:c.2753del	NP_570845.1:p.Ala918GlyfsTer?
NM_130834.3:c.2861del	NP_570847.2:p.Ala954GlyfsTer?
NM_130836.3:c.2918del	NP_570849.2:p.Ala973GlyfsTer?
NM_015560.3:c.2807del	NP_056375.2:p.Ala936GlyfsTer?
NM_130833.3:c.2810del	NP_570846.1:p.Ala937GlyfsTer?
NM_130835.3:c.2864del	NP_570848.1:p.Ala955GlyfsTer?
NM_130837.3:c.2972del MANE Select	NP_570850.2:p.Ala991GlyfsTer?