Canonical Allele Identifier: CA2759313

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1647174
• ClinVar RCV Id: RCV002153619
• dbSNP Id: rs757486140
• ExAC: 3:193360748 TTG / T
• gnomAD v2: 3-193360748-TTG-T
• gnomAD v3: 3-193642959-TTG-T
• gnomAD v4: 3-193642959-TTG-T
• MyVariant Identifiers: chr3:g.193360749_193360750del (hg19) ; chr3:g.193642960_193642961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642963_193642964del , CM000665.2:g.193642963_193642964del	GRCh38
NC_000003.11:g.193360752_193360753del , CM000665.1:g.193360752_193360753del	GRCh37
NC_000003.10:g.194843446_194843447del	NCBI36
NG_011605.1:g.54820_54821del , LRG_337:g.54820_54821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1231-12_1231-11del MANE Select	ENSP00000355324.2:n.1231-12_1231-11del
ENST00000361828.7:c.1066-12_1066-11del	ENSP00000354429.3:n.1066-12_1066-11del
ENST00000361908.8:c.1177-12_1177-11del	ENSP00000354681.3:n.1177-12_1177-11del
ENST00000392436.7:c.1066-12_1066-11del	ENSP00000376231.3:n.1066-12_1066-11del
ENST00000392437.6:c.1120-12_1120-11del	ENSP00000376232.2:n.1120-12_1120-11del
ENST00000642289.1:c.1080-410_1080-409del
ENST00000642445.1:c.1066-12_1066-11del	ENSP00000495535.1:n.1066-12_1066-11del
ENST00000642593.1:c.1066-12_1066-11del	ENSP00000494273.1:n.1066-12_1066-11del
ENST00000643329.1:c.748-12_748-11del	ENSP00000493673.1:n.748-12_748-11del
ENST00000643737.1:c.*1147-12_*1147-11del	ENSP00000494210.1:n.*1147-12_*1147-11del
ENST00000644595.1:c.1066-12_1066-11del	ENSP00000494121.1:n.1066-12_1066-11del
ENST00000644629.1:c.726-12_726-11del
ENST00000644841.1:c.694-12_694-11del	ENSP00000493988.1:n.694-12_694-11del
ENST00000644959.1:c.1035-12_1035-11del
ENST00000645553.1:c.1081-12_1081-11del	ENSP00000494725.1:n.1081-12_1081-11del
ENST00000646085.1:c.*544-12_*544-11del	ENSP00000494509.1:n.*544-12_*544-11del
ENST00000646277.1:c.1231-12_1231-11del	ENSP00000495289.1:n.1231-12_1231-11del
ENST00000646544.1:c.128+118_128+119del
ENST00000646699.1:c.1080-410_1080-409del
ENST00000646793.1:c.958-12_958-11del	ENSP00000494512.1:n.958-12_958-11del
ENST00000361150.6:c.1069-12_1069-11del	ENSP00000354781.2:n.1069-12_1069-11del
ENST00000361510.6:c.1231-12_1231-11del	ENSP00000355324.2:n.1231-12_1231-11del
ENST00000361715.6:c.1123-12_1123-11del	ENSP00000355311.2:n.1123-12_1123-11del
ENST00000361828.6:c.1120-12_1120-11del	ENSP00000354429.2:n.1120-12_1120-11del
ENST00000361908.7:c.1177-12_1177-11del	ENSP00000354681.3:n.1177-12_1177-11del
ENST00000392438.7:c.1066-12_1066-11del	ENSP00000376233.3:n.1066-12_1066-11del
ENST00000475899.1:n.262-12_262-11del
ENST00000497189.5:n.552-12_552-11del
NM_015560.2:c.1066-12_1066-11del , LRG_337t1:c.1066-12_1066-11del	NP_056375.2:n.1066-12_1066-11del
NM_130831.2:c.958-12_958-11del	NP_570844.1:n.958-12_958-11del
NM_130832.2:c.1012-12_1012-11del	NP_570845.1:n.1012-12_1012-11del
NM_130833.2:c.1069-12_1069-11del	NP_570846.1:n.1069-12_1069-11del
NM_130834.2:c.1120-12_1120-11del	NP_570847.2:n.1120-12_1120-11del
NM_130835.2:c.1123-12_1123-11del	NP_570848.1:n.1123-12_1123-11del
NM_130836.2:c.1177-12_1177-11del	NP_570849.2:n.1177-12_1177-11del
NM_130837.2:c.1231-12_1231-11del , LRG_337t2:c.1231-12_1231-11del	NP_570850.2:n.1231-12_1231-11del
XM_011512863.1:c.1231-12_1231-11del	XP_011511165.1:n.1231-12_1231-11del
XM_011512864.1:c.1177-12_1177-11del	XP_011511166.1:n.1177-12_1177-11del
XM_011512865.1:c.1120-12_1120-11del	XP_011511167.1:n.1120-12_1120-11del
XM_011512866.1:c.1069-12_1069-11del	XP_011511168.1:n.1069-12_1069-11del
XM_011512867.1:c.1066-12_1066-11del	XP_011511169.1:n.1066-12_1066-11del
XM_011512868.1:c.958-12_958-11del	XP_011511170.1:n.958-12_958-11del
XM_011512869.1:c.1231-12_1231-11del	XP_011511171.1:n.1231-12_1231-11del
NM_001354663.1:c.697-12_697-11del	NP_001341592.1:n.697-12_697-11del
NM_001354664.1:c.694-12_694-11del	NP_001341593.1:n.694-12_694-11del
XR_001740158.2:n.1460-12_1460-11del
XR_001740159.2:n.1295-12_1295-11del
NM_001354663.2:c.697-12_697-11del	NP_001341592.1:n.697-12_697-11del
NM_001354664.2:c.694-12_694-11del	NP_001341593.1:n.694-12_694-11del
NM_130831.3:c.958-12_958-11del	NP_570844.1:n.958-12_958-11del
NM_130832.3:c.1012-12_1012-11del	NP_570845.1:n.1012-12_1012-11del
NM_130834.3:c.1120-12_1120-11del	NP_570847.2:n.1120-12_1120-11del
NM_130836.3:c.1177-12_1177-11del	NP_570849.2:n.1177-12_1177-11del
NM_015560.3:c.1066-12_1066-11del	NP_056375.2:n.1066-12_1066-11del
NM_130833.3:c.1069-12_1069-11del	NP_570846.1:n.1069-12_1069-11del
NM_130835.3:c.1123-12_1123-11del	NP_570848.1:n.1123-12_1123-11del
NM_130837.3:c.1231-12_1231-11del MANE Select	NP_570850.2:n.1231-12_1231-11del