Canonical Allele Identifier: CA2669103104

Gene: OPA1

Linked Data

• gnomAD v4: 3-193642930-TTAAGATTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642932_193642941del , CM000665.2:g.193642932_193642941del	GRCh38
NC_000003.11:g.193360721_193360730del , CM000665.1:g.193360721_193360730del	GRCh37
NC_000003.10:g.194843415_194843424del	NCBI36
NG_011605.1:g.54789_54798del , LRG_337:g.54789_54798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1231-43_1231-34del MANE Select	ENSP00000355324.2:n.1231-43_1231-34del
ENST00000361828.7:c.1066-43_1066-34del	ENSP00000354429.3:n.1066-43_1066-34del
ENST00000361908.8:c.1177-43_1177-34del	ENSP00000354681.3:n.1177-43_1177-34del
ENST00000392436.7:c.1066-43_1066-34del	ENSP00000376231.3:n.1066-43_1066-34del
ENST00000392437.6:c.1120-43_1120-34del	ENSP00000376232.2:n.1120-43_1120-34del
ENST00000642289.1:c.1080-441_1080-432del
ENST00000642445.1:c.1066-43_1066-34del	ENSP00000495535.1:n.1066-43_1066-34del
ENST00000642593.1:c.1066-43_1066-34del	ENSP00000494273.1:n.1066-43_1066-34del
ENST00000643329.1:c.748-43_748-34del	ENSP00000493673.1:n.748-43_748-34del
ENST00000643737.1:c.*1147-43_*1147-34del	ENSP00000494210.1:n.*1147-43_*1147-34del
ENST00000644595.1:c.1066-43_1066-34del	ENSP00000494121.1:n.1066-43_1066-34del
ENST00000644629.1:c.726-43_726-34del
ENST00000644841.1:c.694-43_694-34del	ENSP00000493988.1:n.694-43_694-34del
ENST00000644959.1:c.1035-43_1035-34del
ENST00000645553.1:c.1081-43_1081-34del	ENSP00000494725.1:n.1081-43_1081-34del
ENST00000646085.1:c.*544-43_*544-34del	ENSP00000494509.1:n.*544-43_*544-34del
ENST00000646277.1:c.1231-43_1231-34del	ENSP00000495289.1:n.1231-43_1231-34del
ENST00000646544.1:c.128+87_128+96del
ENST00000646699.1:c.1080-441_1080-432del
ENST00000646793.1:c.958-43_958-34del	ENSP00000494512.1:n.958-43_958-34del
ENST00000361150.6:c.1069-43_1069-34del	ENSP00000354781.2:n.1069-43_1069-34del
ENST00000361510.6:c.1231-43_1231-34del	ENSP00000355324.2:n.1231-43_1231-34del
ENST00000361715.6:c.1123-43_1123-34del	ENSP00000355311.2:n.1123-43_1123-34del
ENST00000361828.6:c.1120-43_1120-34del	ENSP00000354429.2:n.1120-43_1120-34del
ENST00000361908.7:c.1177-43_1177-34del	ENSP00000354681.3:n.1177-43_1177-34del
ENST00000392438.7:c.1066-43_1066-34del	ENSP00000376233.3:n.1066-43_1066-34del
ENST00000475899.1:n.262-43_262-34del
ENST00000497189.5:n.552-43_552-34del
NM_015560.2:c.1066-43_1066-34del , LRG_337t1:c.1066-43_1066-34del	NP_056375.2:n.1066-43_1066-34del
NM_130831.2:c.958-43_958-34del	NP_570844.1:n.958-43_958-34del
NM_130832.2:c.1012-43_1012-34del	NP_570845.1:n.1012-43_1012-34del
NM_130833.2:c.1069-43_1069-34del	NP_570846.1:n.1069-43_1069-34del
NM_130834.2:c.1120-43_1120-34del	NP_570847.2:n.1120-43_1120-34del
NM_130835.2:c.1123-43_1123-34del	NP_570848.1:n.1123-43_1123-34del
NM_130836.2:c.1177-43_1177-34del	NP_570849.2:n.1177-43_1177-34del
NM_130837.2:c.1231-43_1231-34del , LRG_337t2:c.1231-43_1231-34del	NP_570850.2:n.1231-43_1231-34del
XM_011512863.1:c.1231-43_1231-34del	XP_011511165.1:n.1231-43_1231-34del
XM_011512864.1:c.1177-43_1177-34del	XP_011511166.1:n.1177-43_1177-34del
XM_011512865.1:c.1120-43_1120-34del	XP_011511167.1:n.1120-43_1120-34del
XM_011512866.1:c.1069-43_1069-34del	XP_011511168.1:n.1069-43_1069-34del
XM_011512867.1:c.1066-43_1066-34del	XP_011511169.1:n.1066-43_1066-34del
XM_011512868.1:c.958-43_958-34del	XP_011511170.1:n.958-43_958-34del
XM_011512869.1:c.1231-43_1231-34del	XP_011511171.1:n.1231-43_1231-34del
NM_001354663.1:c.697-43_697-34del	NP_001341592.1:n.697-43_697-34del
NM_001354664.1:c.694-43_694-34del	NP_001341593.1:n.694-43_694-34del
XR_001740158.2:n.1460-43_1460-34del
XR_001740159.2:n.1295-43_1295-34del
NM_001354663.2:c.697-43_697-34del	NP_001341592.1:n.697-43_697-34del
NM_001354664.2:c.694-43_694-34del	NP_001341593.1:n.694-43_694-34del
NM_130831.3:c.958-43_958-34del	NP_570844.1:n.958-43_958-34del
NM_130832.3:c.1012-43_1012-34del	NP_570845.1:n.1012-43_1012-34del
NM_130834.3:c.1120-43_1120-34del	NP_570847.2:n.1120-43_1120-34del
NM_130836.3:c.1177-43_1177-34del	NP_570849.2:n.1177-43_1177-34del
NM_015560.3:c.1066-43_1066-34del	NP_056375.2:n.1066-43_1066-34del
NM_130833.3:c.1069-43_1069-34del	NP_570846.1:n.1069-43_1069-34del
NM_130835.3:c.1123-43_1123-34del	NP_570848.1:n.1123-43_1123-34del
NM_130837.3:c.1231-43_1231-34del MANE Select	NP_570850.2:n.1231-43_1231-34del