Canonical Allele Identifier: CA2669103248

Gene: OPA1

Linked Data

• gnomAD v4: 3-193643347-GTTTTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643358_193643363del , CM000665.2:g.193643358_193643363del	GRCh38
NC_000003.11:g.193361147_193361152del , CM000665.1:g.193361147_193361152del	GRCh37
NC_000003.10:g.194843841_194843846del	NCBI36
NG_011605.1:g.55215_55220del , LRG_337:g.55215_55220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1306-15_1306-10del MANE Select	ENSP00000355324.2:n.1306-15_1306-10del
ENST00000361828.7:c.1141-15_1141-10del	ENSP00000354429.3:n.1141-15_1141-10del
ENST00000361908.8:c.1252-15_1252-10del	ENSP00000354681.3:n.1252-15_1252-10del
ENST00000392436.7:c.1141-15_1141-10del	ENSP00000376231.3:n.1141-15_1141-10del
ENST00000392437.6:c.1195-15_1195-10del	ENSP00000376232.2:n.1195-15_1195-10del
ENST00000642289.1:c.1080-15_1080-10del
ENST00000642445.1:c.1141-15_1141-10del	ENSP00000495535.1:n.1141-15_1141-10del
ENST00000642593.1:c.1141-15_1141-10del	ENSP00000494273.1:n.1141-15_1141-10del
ENST00000643329.1:c.823-15_823-10del	ENSP00000493673.1:n.823-15_823-10del
ENST00000643737.1:c.*1222-15_*1222-10del	ENSP00000494210.1:n.*1222-15_*1222-10del
ENST00000644595.1:c.1141-15_1141-10del	ENSP00000494121.1:n.1141-15_1141-10del
ENST00000644629.1:c.801-15_801-10del
ENST00000644841.1:c.769-15_769-10del	ENSP00000493988.1:n.769-15_769-10del
ENST00000644959.1:c.1110-15_1110-10del
ENST00000645553.1:c.1156-15_1156-10del	ENSP00000494725.1:n.1156-15_1156-10del
ENST00000646085.1:c.*619-15_*619-10del	ENSP00000494509.1:n.*619-15_*619-10del
ENST00000646277.1:c.1306-15_1306-10del	ENSP00000495289.1:n.1306-15_1306-10del
ENST00000646544.1:c.129-15_129-10del
ENST00000646699.1:c.1080-15_1080-10del
ENST00000646793.1:c.1033-15_1033-10del	ENSP00000494512.1:n.1033-15_1033-10del
ENST00000361150.6:c.1144-15_1144-10del	ENSP00000354781.2:n.1144-15_1144-10del
ENST00000361510.6:c.1306-15_1306-10del	ENSP00000355324.2:n.1306-15_1306-10del
ENST00000361715.6:c.1198-15_1198-10del	ENSP00000355311.2:n.1198-15_1198-10del
ENST00000361828.6:c.1195-15_1195-10del	ENSP00000354429.2:n.1195-15_1195-10del
ENST00000361908.7:c.1252-15_1252-10del	ENSP00000354681.3:n.1252-15_1252-10del
ENST00000392438.7:c.1141-15_1141-10del	ENSP00000376233.3:n.1141-15_1141-10del
ENST00000475899.1:n.337-15_337-10del
NM_015560.2:c.1141-15_1141-10del , LRG_337t1:c.1141-15_1141-10del	NP_056375.2:n.1141-15_1141-10del
NM_130831.2:c.1033-15_1033-10del	NP_570844.1:n.1033-15_1033-10del
NM_130832.2:c.1087-15_1087-10del	NP_570845.1:n.1087-15_1087-10del
NM_130833.2:c.1144-15_1144-10del	NP_570846.1:n.1144-15_1144-10del
NM_130834.2:c.1195-15_1195-10del	NP_570847.2:n.1195-15_1195-10del
NM_130835.2:c.1198-15_1198-10del	NP_570848.1:n.1198-15_1198-10del
NM_130836.2:c.1252-15_1252-10del	NP_570849.2:n.1252-15_1252-10del
NM_130837.2:c.1306-15_1306-10del , LRG_337t2:c.1306-15_1306-10del	NP_570850.2:n.1306-15_1306-10del
XM_011512863.1:c.1306-15_1306-10del	XP_011511165.1:n.1306-15_1306-10del
XM_011512864.1:c.1252-15_1252-10del	XP_011511166.1:n.1252-15_1252-10del
XM_011512865.1:c.1195-15_1195-10del	XP_011511167.1:n.1195-15_1195-10del
XM_011512866.1:c.1144-15_1144-10del	XP_011511168.1:n.1144-15_1144-10del
XM_011512867.1:c.1141-15_1141-10del	XP_011511169.1:n.1141-15_1141-10del
XM_011512868.1:c.1033-15_1033-10del	XP_011511170.1:n.1033-15_1033-10del
XM_011512869.1:c.1306-15_1306-10del	XP_011511171.1:n.1306-15_1306-10del
NM_001354663.1:c.772-15_772-10del	NP_001341592.1:n.772-15_772-10del
NM_001354664.1:c.769-15_769-10del	NP_001341593.1:n.769-15_769-10del
XR_001740158.2:n.1535-15_1535-10del
XR_001740159.2:n.1370-15_1370-10del
NM_001354663.2:c.772-15_772-10del	NP_001341592.1:n.772-15_772-10del
NM_001354664.2:c.769-15_769-10del	NP_001341593.1:n.769-15_769-10del
NM_130831.3:c.1033-15_1033-10del	NP_570844.1:n.1033-15_1033-10del
NM_130832.3:c.1087-15_1087-10del	NP_570845.1:n.1087-15_1087-10del
NM_130834.3:c.1195-15_1195-10del	NP_570847.2:n.1195-15_1195-10del
NM_130836.3:c.1252-15_1252-10del	NP_570849.2:n.1252-15_1252-10del
NM_015560.3:c.1141-15_1141-10del	NP_056375.2:n.1141-15_1141-10del
NM_130833.3:c.1144-15_1144-10del	NP_570846.1:n.1144-15_1144-10del
NM_130835.3:c.1198-15_1198-10del	NP_570848.1:n.1198-15_1198-10del
NM_130837.3:c.1306-15_1306-10del MANE Select	NP_570850.2:n.1306-15_1306-10del