Canonical Allele Identifier: CA2697557029

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2687786
• ClinVar RCV Id: RCV003485955

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662906del , CM000665.2:g.193662906del	GRCh38
NC_000003.11:g.193380695del , CM000665.1:g.193380695del	GRCh37
NC_000003.10:g.194863389del	NCBI36
NG_011605.1:g.74763del , LRG_337:g.74763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2605del MANE Select	ENSP00000355324.2:p.Ile869Ter
ENST00000361828.7:c.2440del	ENSP00000354429.3:p.Ile814Ter
ENST00000361908.8:c.2551del	ENSP00000354681.3:p.Ile851Ter
ENST00000392436.7:c.2440del	ENSP00000376231.3:p.Ile814Ter
ENST00000392437.6:c.2494del	ENSP00000376232.2:p.Ile832Ter
ENST00000642289.1:c.2379del
ENST00000642445.1:c.2440del	ENSP00000495535.1:p.Ile814Ter
ENST00000642593.1:c.*665del	ENSP00000494273.1:n.*665del
ENST00000643329.1:c.2122del	ENSP00000493673.1:p.Ile708Ter
ENST00000643737.1:c.*2521del	ENSP00000494210.1:n.*2521del
ENST00000644595.1:c.2440del	ENSP00000494121.1:p.Ile814Ter
ENST00000644629.1:c.2027del
ENST00000644841.1:c.*924del	ENSP00000493988.1:n.*924del
ENST00000644959.1:c.2434del
ENST00000645553.1:c.2455del	ENSP00000494725.1:p.Ile819Ter
ENST00000646085.1:c.*1918del	ENSP00000494509.1:n.*1918del
ENST00000646277.1:c.*1041del	ENSP00000495289.1:n.*1041del
ENST00000646544.1:c.1428del
ENST00000646699.1:c.2379del
ENST00000646793.1:c.2332del	ENSP00000494512.1:p.Ile778Ter
ENST00000361150.6:c.2443del	ENSP00000354781.2:p.Ile815Ter
ENST00000361510.6:c.2605del	ENSP00000355324.2:p.Ile869Ter
ENST00000361715.6:c.2497del	ENSP00000355311.2:p.Ile833Ter
ENST00000361828.6:c.2494del	ENSP00000354429.2:p.Ile832Ter
ENST00000361908.7:c.2551del	ENSP00000354681.3:p.Ile851Ter
ENST00000392438.7:c.2440del	ENSP00000376233.3:p.Ile814Ter
ENST00000445863.1:c.16del	ENSP00000398358.1:p.Ile6Ter
NM_015560.2:c.2440del , LRG_337t1:c.2440del	NP_056375.2:p.Ile814Ter
NM_130831.2:c.2332del	NP_570844.1:p.Ile778Ter
NM_130832.2:c.2386del	NP_570845.1:p.Ile796Ter
NM_130833.2:c.2443del	NP_570846.1:p.Ile815Ter
NM_130834.2:c.2494del	NP_570847.2:p.Ile832Ter
NM_130835.2:c.2497del	NP_570848.1:p.Ile833Ter
NM_130836.2:c.2551del	NP_570849.2:p.Ile851Ter
NM_130837.2:c.2605del , LRG_337t2:c.2605del	NP_570850.2:p.Ile869Ter
XM_011512863.1:c.2605del	XP_011511165.1:p.Ile869Ter
XM_011512864.1:c.2551del	XP_011511166.1:p.Ile851Ter
XM_011512865.1:c.2494del	XP_011511167.1:p.Ile832Ter
XM_011512866.1:c.2443del	XP_011511168.1:p.Ile815Ter
XM_011512867.1:c.2440del	XP_011511169.1:p.Ile814Ter
XM_011512868.1:c.2332del	XP_011511170.1:p.Ile778Ter
XR_924835.1:n.582+6016del
NM_001354663.1:c.2071del	NP_001341592.1:p.Ile691Ter
NM_001354664.1:c.2068del	NP_001341593.1:p.Ile690Ter
XR_001740158.2:n.2859del
XR_001740159.2:n.2694del
XR_001741072.1:n.601-2819del
XR_001741074.1:n.475+7904del
XR_924835.2:n.600+6016del
NM_001354663.2:c.2071del	NP_001341592.1:p.Ile691Ter
NM_001354664.2:c.2068del	NP_001341593.1:p.Ile690Ter
NM_130831.3:c.2332del	NP_570844.1:p.Ile778Ter
NM_130832.3:c.2386del	NP_570845.1:p.Ile796Ter
NM_130834.3:c.2494del	NP_570847.2:p.Ile832Ter
NM_130836.3:c.2551del	NP_570849.2:p.Ile851Ter
NM_015560.3:c.2440del	NP_056375.2:p.Ile814Ter
NM_130833.3:c.2443del	NP_570846.1:p.Ile815Ter
NM_130835.3:c.2497del	NP_570848.1:p.Ile833Ter
NM_130837.3:c.2605del MANE Select	NP_570850.2:p.Ile869Ter