Canonical Allele Identifier: CA2580070557

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2005665
• ClinVar RCV Id: RCV002825387

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638005del , CM000665.2:g.193638005del	GRCh38
NC_000003.11:g.193355794del , CM000665.1:g.193355794del	GRCh37
NC_000003.10:g.194838488del	NCBI36
NG_011605.1:g.49862del , LRG_337:g.49862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1089del MANE Select	ENSP00000355324.2:p.Ile363MetfsTer14
ENST00000361828.7:c.924del	ENSP00000354429.3:p.Ile308MetfsTer14
ENST00000361908.8:c.1035del	ENSP00000354681.3:p.Ile345MetfsTer14
ENST00000392436.7:c.924del	ENSP00000376231.3:p.Ile308MetfsTer14
ENST00000392437.6:c.978del	ENSP00000376232.2:p.Ile326MetfsTer14
ENST00000642289.1:c.1019del
ENST00000642445.1:c.924del	ENSP00000495535.1:p.Ile308MetfsTer14
ENST00000642593.1:c.924del	ENSP00000494273.1:p.Ile308MetfsTer14
ENST00000643329.1:c.606del	ENSP00000493673.1:p.Ile202MetfsTer14
ENST00000643737.1:c.*1005del	ENSP00000494210.1:n.*1005del
ENST00000644595.1:c.924del	ENSP00000494121.1:p.Ile308MetfsTer14
ENST00000644629.1:c.584del
ENST00000644841.1:c.552del	ENSP00000493988.1:p.Ile184MetfsTer14
ENST00000644959.1:c.893del
ENST00000645553.1:c.939del	ENSP00000494725.1:p.Ile313MetfsTer14
ENST00000646085.1:c.*402del	ENSP00000494509.1:n.*402del
ENST00000646277.1:c.1089del	ENSP00000495289.1:p.Ile363MetfsTer14
ENST00000646699.1:c.1019del
ENST00000646793.1:c.816del	ENSP00000494512.1:p.Ile272MetfsTer14
ENST00000361150.6:c.927del	ENSP00000354781.2:p.Ile309MetfsTer14
ENST00000361510.6:c.1089del	ENSP00000355324.2:p.Ile363MetfsTer14
ENST00000361715.6:c.981del	ENSP00000355311.2:p.Ile327MetfsTer14
ENST00000361828.6:c.978del	ENSP00000354429.2:p.Ile326MetfsTer14
ENST00000361908.7:c.1035del	ENSP00000354681.3:p.Ile345MetfsTer14
ENST00000392438.7:c.924del	ENSP00000376233.3:p.Ile308MetfsTer14
ENST00000475899.1:n.120del
ENST00000495476.1:n.445del
ENST00000497189.5:n.410del
NM_015560.2:c.924del , LRG_337t1:c.924del	NP_056375.2:p.Ile308MetfsTer14
NM_130831.2:c.816del	NP_570844.1:p.Ile272MetfsTer14
NM_130832.2:c.870del	NP_570845.1:p.Ile290MetfsTer14
NM_130833.2:c.927del	NP_570846.1:p.Ile309MetfsTer14
NM_130834.2:c.978del	NP_570847.2:p.Ile326MetfsTer14
NM_130835.2:c.981del	NP_570848.1:p.Ile327MetfsTer14
NM_130836.2:c.1035del	NP_570849.2:p.Ile345MetfsTer14
NM_130837.2:c.1089del , LRG_337t2:c.1089del	NP_570850.2:p.Ile363MetfsTer14
XM_011512863.1:c.1089del	XP_011511165.1:p.Ile363MetfsTer14
XM_011512864.1:c.1035del	XP_011511166.1:p.Ile345MetfsTer14
XM_011512865.1:c.978del	XP_011511167.1:p.Ile326MetfsTer14
XM_011512866.1:c.927del	XP_011511168.1:p.Ile309MetfsTer14
XM_011512867.1:c.924del	XP_011511169.1:p.Ile308MetfsTer14
XM_011512868.1:c.816del	XP_011511170.1:p.Ile272MetfsTer14
XM_011512869.1:c.1089del	XP_011511171.1:p.Ile363MetfsTer14
NM_001354663.1:c.555del	NP_001341592.1:p.Ile185MetfsTer14
NM_001354664.1:c.552del	NP_001341593.1:p.Ile184MetfsTer14
XR_001740158.2:n.1318del
XR_001740159.2:n.1153del
NM_001354663.2:c.555del	NP_001341592.1:p.Ile185MetfsTer14
NM_001354664.2:c.552del	NP_001341593.1:p.Ile184MetfsTer14
NM_130831.3:c.816del	NP_570844.1:p.Ile272MetfsTer14
NM_130832.3:c.870del	NP_570845.1:p.Ile290MetfsTer14
NM_130834.3:c.978del	NP_570847.2:p.Ile326MetfsTer14
NM_130836.3:c.1035del	NP_570849.2:p.Ile345MetfsTer14
NM_015560.3:c.924del	NP_056375.2:p.Ile308MetfsTer14
NM_130833.3:c.927del	NP_570846.1:p.Ile309MetfsTer14
NM_130835.3:c.981del	NP_570848.1:p.Ile327MetfsTer14
NM_130837.3:c.1089del MANE Select	NP_570850.2:p.Ile363MetfsTer14