Canonical Allele Identifier: CA2573332949

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662893del , CM000665.2:g.193662893del	GRCh38
NC_000003.11:g.193380682del , CM000665.1:g.193380682del	GRCh37
NC_000003.10:g.194863376del	NCBI36
NG_011605.1:g.74750del , LRG_337:g.74750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2592del MANE Select	ENSP00000355324.2:p.Ala865GlnfsTer5
ENST00000361828.7:c.2427del	ENSP00000354429.3:p.Ala810GlnfsTer5
ENST00000361908.8:c.2538del	ENSP00000354681.3:p.Ala847GlnfsTer5
ENST00000392436.7:c.2427del	ENSP00000376231.3:p.Ala810GlnfsTer5
ENST00000392437.6:c.2481del	ENSP00000376232.2:p.Ala828GlnfsTer5
ENST00000642289.1:c.2366del
ENST00000642445.1:c.2427del	ENSP00000495535.1:p.Ala810GlnfsTer5
ENST00000642593.1:c.*652del	ENSP00000494273.1:n.*652del
ENST00000643329.1:c.2109del	ENSP00000493673.1:p.Ala704GlnfsTer5
ENST00000643737.1:c.*2508del	ENSP00000494210.1:n.*2508del
ENST00000644595.1:c.2427del	ENSP00000494121.1:p.Ala810GlnfsTer5
ENST00000644629.1:c.2014del
ENST00000644841.1:c.*911del	ENSP00000493988.1:n.*911del
ENST00000644959.1:c.2421del
ENST00000645553.1:c.2442del	ENSP00000494725.1:p.Ala815GlnfsTer5
ENST00000646085.1:c.*1905del	ENSP00000494509.1:n.*1905del
ENST00000646277.1:c.*1028del	ENSP00000495289.1:n.*1028del
ENST00000646544.1:c.1415del
ENST00000646699.1:c.2366del
ENST00000646793.1:c.2319del	ENSP00000494512.1:p.Ala774GlnfsTer5
ENST00000361150.6:c.2430del	ENSP00000354781.2:p.Ala811GlnfsTer5
ENST00000361510.6:c.2592del	ENSP00000355324.2:p.Ala865GlnfsTer5
ENST00000361715.6:c.2484del	ENSP00000355311.2:p.Ala829GlnfsTer5
ENST00000361828.6:c.2481del	ENSP00000354429.2:p.Ala828GlnfsTer5
ENST00000361908.7:c.2538del	ENSP00000354681.3:p.Ala847GlnfsTer5
ENST00000392438.7:c.2427del	ENSP00000376233.3:p.Ala810GlnfsTer5
ENST00000445863.1:c.3del	ENSP00000398358.1:p.Ala2GlnfsTer5
NM_015560.2:c.2427del , LRG_337t1:c.2427del	NP_056375.2:p.Ala810GlnfsTer5
NM_130831.2:c.2319del	NP_570844.1:p.Ala774GlnfsTer5
NM_130832.2:c.2373del	NP_570845.1:p.Ala792GlnfsTer5
NM_130833.2:c.2430del	NP_570846.1:p.Ala811GlnfsTer5
NM_130834.2:c.2481del	NP_570847.2:p.Ala828GlnfsTer5
NM_130835.2:c.2484del	NP_570848.1:p.Ala829GlnfsTer5
NM_130836.2:c.2538del	NP_570849.2:p.Ala847GlnfsTer5
NM_130837.2:c.2592del , LRG_337t2:c.2592del	NP_570850.2:p.Ala865GlnfsTer5
XM_011512863.1:c.2592del	XP_011511165.1:p.Ala865GlnfsTer5
XM_011512864.1:c.2538del	XP_011511166.1:p.Ala847GlnfsTer5
XM_011512865.1:c.2481del	XP_011511167.1:p.Ala828GlnfsTer5
XM_011512866.1:c.2430del	XP_011511168.1:p.Ala811GlnfsTer5
XM_011512867.1:c.2427del	XP_011511169.1:p.Ala810GlnfsTer5
XM_011512868.1:c.2319del	XP_011511170.1:p.Ala774GlnfsTer5
XR_924835.1:n.582+6028del
NM_001354663.1:c.2058del	NP_001341592.1:p.Ala687GlnfsTer5
NM_001354664.1:c.2055del	NP_001341593.1:p.Ala686GlnfsTer5
XR_001740158.2:n.2846del
XR_001740159.2:n.2681del
XR_001741072.1:n.601-2807del
XR_001741074.1:n.475+7916del
XR_924835.2:n.600+6028del
NM_001354663.2:c.2058del	NP_001341592.1:p.Ala687GlnfsTer5
NM_001354664.2:c.2055del	NP_001341593.1:p.Ala686GlnfsTer5
NM_130831.3:c.2319del	NP_570844.1:p.Ala774GlnfsTer5
NM_130832.3:c.2373del	NP_570845.1:p.Ala792GlnfsTer5
NM_130834.3:c.2481del	NP_570847.2:p.Ala828GlnfsTer5
NM_130836.3:c.2538del	NP_570849.2:p.Ala847GlnfsTer5
NM_015560.3:c.2427del	NP_056375.2:p.Ala810GlnfsTer5
NM_130833.3:c.2430del	NP_570846.1:p.Ala811GlnfsTer5
NM_130835.3:c.2484del	NP_570848.1:p.Ala829GlnfsTer5
NM_130837.3:c.2592del MANE Select	NP_570850.2:p.Ala865GlnfsTer5