Canonical Allele Identifier: CA2586973387

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667233del , CM000665.2:g.193667233del	GRCh38
NC_000003.11:g.193385022del , CM000665.1:g.193385022del	GRCh37
NC_000003.10:g.194867716del	NCBI36
NG_011605.1:g.79090del , LRG_337:g.79090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2936del MANE Select	ENSP00000355324.2:p.Lys979ArgfsTer?
ENST00000361828.7:c.2771del	ENSP00000354429.3:p.Lys924ArgfsTer?
ENST00000361908.8:c.2882del	ENSP00000354681.3:p.Lys961ArgfsTer?
ENST00000392436.7:c.2771del	ENSP00000376231.3:p.Lys924ArgfsTer?
ENST00000392437.6:c.2825del	ENSP00000376232.2:p.Lys942ArgfsTer?
ENST00000642289.1:c.2710del
ENST00000642445.1:c.2771del	ENSP00000495535.1:p.Lys924ArgfsTer?
ENST00000642593.1:c.*996del	ENSP00000494273.1:n.*996del
ENST00000643329.1:c.2453del	ENSP00000493673.1:p.Lys818ArgfsTer?
ENST00000643737.1:c.*2852del	ENSP00000494210.1:n.*2852del
ENST00000644595.1:c.2771del	ENSP00000494121.1:p.Lys924ArgfsTer18
ENST00000644629.1:c.2358del
ENST00000644841.1:c.*1255del	ENSP00000493988.1:n.*1255del
ENST00000644959.1:c.2765del
ENST00000645553.1:c.2786del	ENSP00000494725.1:p.Lys929ArgfsTer?
ENST00000646085.1:c.*2249del	ENSP00000494509.1:n.*2249del
ENST00000646277.1:c.*1372del	ENSP00000495289.1:n.*1372del
ENST00000646544.1:c.1759del
ENST00000646699.1:c.2710del
ENST00000646793.1:c.2663del	ENSP00000494512.1:p.Lys888ArgfsTer?
ENST00000361150.6:c.2774del	ENSP00000354781.2:p.Lys925ArgfsTer?
ENST00000361510.6:c.2936del	ENSP00000355324.2:p.Lys979ArgfsTer?
ENST00000361715.6:c.2828del	ENSP00000355311.2:p.Lys943ArgfsTer?
ENST00000361828.6:c.2825del	ENSP00000354429.2:p.Lys942ArgfsTer?
ENST00000361908.7:c.2882del	ENSP00000354681.3:p.Lys961ArgfsTer?
ENST00000392438.7:c.2771del	ENSP00000376233.3:p.Lys924ArgfsTer?
ENST00000429164.1:c.58del
ENST00000445863.1:c.347del	ENSP00000398358.1:p.Lys116ArgfsTer24
NM_015560.2:c.2771del , LRG_337t1:c.2771del	NP_056375.2:p.Lys924ArgfsTer?
NM_130831.2:c.2663del	NP_570844.1:p.Lys888ArgfsTer?
NM_130832.2:c.2717del	NP_570845.1:p.Lys906ArgfsTer?
NM_130833.2:c.2774del	NP_570846.1:p.Lys925ArgfsTer?
NM_130834.2:c.2825del	NP_570847.2:p.Lys942ArgfsTer?
NM_130835.2:c.2828del	NP_570848.1:p.Lys943ArgfsTer?
NM_130836.2:c.2882del	NP_570849.2:p.Lys961ArgfsTer?
NM_130837.2:c.2936del , LRG_337t2:c.2936del	NP_570850.2:p.Lys979ArgfsTer?
XM_011512863.1:c.2936del	XP_011511165.1:p.Lys979ArgfsTer17
XM_011512864.1:c.2882del	XP_011511166.1:p.Lys961ArgfsTer17
XM_011512865.1:c.2825del	XP_011511167.1:p.Lys942ArgfsTer17
XM_011512866.1:c.2774del	XP_011511168.1:p.Lys925ArgfsTer17
XM_011512867.1:c.2771del	XP_011511169.1:p.Lys924ArgfsTer17
XM_011512868.1:c.2663del	XP_011511170.1:p.Lys888ArgfsTer17
XR_924835.1:n.582+1688del
NM_001354663.1:c.2402del	NP_001341592.1:p.Lys801ArgfsTer?
NM_001354664.1:c.2399del	NP_001341593.1:p.Lys800ArgfsTer?
XR_001740158.2:n.3190del
XR_001740159.2:n.3025del
XR_001741072.1:n.600+1688del
XR_001741074.1:n.475+3576del
XR_924835.2:n.600+1688del
NM_001354663.2:c.2402del	NP_001341592.1:p.Lys801ArgfsTer?
NM_001354664.2:c.2399del	NP_001341593.1:p.Lys800ArgfsTer?
NM_130831.3:c.2663del	NP_570844.1:p.Lys888ArgfsTer?
NM_130832.3:c.2717del	NP_570845.1:p.Lys906ArgfsTer?
NM_130834.3:c.2825del	NP_570847.2:p.Lys942ArgfsTer?
NM_130836.3:c.2882del	NP_570849.2:p.Lys961ArgfsTer?
NM_015560.3:c.2771del	NP_056375.2:p.Lys924ArgfsTer?
NM_130833.3:c.2774del	NP_570846.1:p.Lys925ArgfsTer?
NM_130835.3:c.2828del	NP_570848.1:p.Lys943ArgfsTer?
NM_130837.3:c.2936del MANE Select	NP_570850.2:p.Lys979ArgfsTer?