Canonical Allele Identifier: CA1430270639

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662872_193662875delinsTGAG , CM000665.2:g.193662872_193662875delinsTGAG	GRCh38
NC_000003.11:g.193380661_193380664delinsTGAG , CM000665.1:g.193380661_193380664delinsTGAG	GRCh37
NC_000003.10:g.194863355_194863358delinsTGAG	NCBI36
NG_011605.1:g.74729_74732delinsTGAG , LRG_337:g.74729_74732delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2571_2574delinsTGAG MANE Select	ENSP00000355324.2:p.Asn857=
ENST00000361828.7:c.2406_2409delinsTGAG	ENSP00000354429.3:p.Asn802=
ENST00000361908.8:c.2517_2520delinsTGAG	ENSP00000354681.3:p.Asn839=
ENST00000392436.7:c.2406_2409delinsTGAG	ENSP00000376231.3:p.Asn802=
ENST00000392437.6:c.2460_2463delinsTGAG	ENSP00000376232.2:p.Asn820=
ENST00000642289.1:c.2345_2348delinsTGAG
ENST00000642445.1:c.2406_2409delinsTGAG	ENSP00000495535.1:p.Asn802=
ENST00000642593.1:c.*631_*634delinsTGAG	ENSP00000494273.1:n.*631_*634delinsTGAG
ENST00000643329.1:c.2088_2091delinsTGAG	ENSP00000493673.1:p.Asn696=
ENST00000643737.1:c.*2487_*2490delinsTGAG	ENSP00000494210.1:n.*2487_*2490delinsTGAG
ENST00000644595.1:c.2406_2409delinsTGAG	ENSP00000494121.1:p.Asn802=
ENST00000644629.1:c.1993_1996delinsTGAG
ENST00000644841.1:c.*890_*893delinsTGAG	ENSP00000493988.1:n.*890_*893delinsTGAG
ENST00000644959.1:c.2400_2403delinsTGAG
ENST00000645553.1:c.2421_2424delinsTGAG	ENSP00000494725.1:p.Asn807=
ENST00000646085.1:c.*1884_*1887delinsTGAG	ENSP00000494509.1:n.*1884_*1887delinsTGAG
ENST00000646277.1:c.*1007_*1010delinsTGAG	ENSP00000495289.1:n.*1007_*1010delinsTGAG
ENST00000646544.1:c.1394_1397delinsTGAG
ENST00000646699.1:c.2345_2348delinsTGAG
ENST00000646793.1:c.2298_2301delinsTGAG	ENSP00000494512.1:p.Asn766=
ENST00000361150.6:c.2409_2412delinsTGAG	ENSP00000354781.2:p.Asn803=
ENST00000361510.6:c.2571_2574delinsTGAG	ENSP00000355324.2:p.Asn857=
ENST00000361715.6:c.2463_2466delinsTGAG	ENSP00000355311.2:p.Asn821=
ENST00000361828.6:c.2460_2463delinsTGAG	ENSP00000354429.2:p.Asn820=
ENST00000361908.7:c.2517_2520delinsTGAG	ENSP00000354681.3:p.Asn839=
ENST00000392438.7:c.2406_2409delinsTGAG	ENSP00000376233.3:p.Asn802=
NM_015560.2:c.2406_2409delinsTGAG , LRG_337t1:c.2406_2409delinsTGAG	NP_056375.2:p.Asn802=
NM_130831.2:c.2298_2301delinsTGAG	NP_570844.1:p.Asn766=
NM_130832.2:c.2352_2355delinsTGAG	NP_570845.1:p.Asn784=
NM_130833.2:c.2409_2412delinsTGAG	NP_570846.1:p.Asn803=
NM_130834.2:c.2460_2463delinsTGAG	NP_570847.2:p.Asn820=
NM_130835.2:c.2463_2466delinsTGAG	NP_570848.1:p.Asn821=
NM_130836.2:c.2517_2520delinsTGAG	NP_570849.2:p.Asn839=
NM_130837.2:c.2571_2574delinsTGAG , LRG_337t2:c.2571_2574delinsTGAG	NP_570850.2:p.Asn857=
XM_011512863.1:c.2571_2574delinsTGAG	XP_011511165.1:p.Asn857=
XM_011512864.1:c.2517_2520delinsTGAG	XP_011511166.1:p.Asn839=
XM_011512865.1:c.2460_2463delinsTGAG	XP_011511167.1:p.Asn820=
XM_011512866.1:c.2409_2412delinsTGAG	XP_011511168.1:p.Asn803=
XM_011512867.1:c.2406_2409delinsTGAG	XP_011511169.1:p.Asn802=
XM_011512868.1:c.2298_2301delinsTGAG	XP_011511170.1:p.Asn766=
XR_924835.1:n.582+6045_582+6048delinsCTCA
NM_001354663.1:c.2037_2040delinsTGAG	NP_001341592.1:p.Asn679=
NM_001354664.1:c.2034_2037delinsTGAG	NP_001341593.1:p.Asn678=
XR_001740158.2:n.2825_2828delinsTGAG
XR_001740159.2:n.2660_2663delinsTGAG
XR_001741072.1:n.601-2790_601-2787delinsCTCA
XR_001741074.1:n.475+7933_475+7936delinsCTCA
XR_924835.2:n.600+6045_600+6048delinsCTCA
NM_001354663.2:c.2037_2040delinsTGAG	NP_001341592.1:p.Asn679=
NM_001354664.2:c.2034_2037delinsTGAG	NP_001341593.1:p.Asn678=
NM_130831.3:c.2298_2301delinsTGAG	NP_570844.1:p.Asn766=
NM_130832.3:c.2352_2355delinsTGAG	NP_570845.1:p.Asn784=
NM_130834.3:c.2460_2463delinsTGAG	NP_570847.2:p.Asn820=
NM_130836.3:c.2517_2520delinsTGAG	NP_570849.2:p.Asn839=
NM_015560.3:c.2406_2409delinsTGAG	NP_056375.2:p.Asn802=
NM_130833.3:c.2409_2412delinsTGAG	NP_570846.1:p.Asn803=
NM_130835.3:c.2463_2466delinsTGAG	NP_570848.1:p.Asn821=
NM_130837.3:c.2571_2574delinsTGAG MANE Select	NP_570850.2:p.Asn857=