Canonical Allele Identifier: CA2580616036

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1452976
• ClinVar RCV Id: RCV001994697
• dbSNP Id: rs2109044278

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643532_193643533del , CM000665.2:g.193643532_193643533del	GRCh38
NC_000003.11:g.193361321_193361322del , CM000665.1:g.193361321_193361322del	GRCh37
NC_000003.10:g.194844015_194844016del	NCBI36
NG_011605.1:g.55389_55390del , LRG_337:g.55389_55390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1382_1383del MANE Select	ENSP00000355324.2:p.Val461AspfsTer7
ENST00000361828.7:c.1217_1218del	ENSP00000354429.3:p.Val406AspfsTer7
ENST00000361908.8:c.1328_1329del	ENSP00000354681.3:p.Val443AspfsTer7
ENST00000392436.7:c.1217_1218del	ENSP00000376231.3:p.Val406AspfsTer7
ENST00000392437.6:c.1271_1272del	ENSP00000376232.2:p.Val424AspfsTer7
ENST00000642289.1:c.1156_1157del
ENST00000642445.1:c.1217_1218del	ENSP00000495535.1:p.Val406AspfsTer7
ENST00000642593.1:c.1217_1218del	ENSP00000494273.1:p.Val406AspfsTer7
ENST00000643329.1:c.899_900del	ENSP00000493673.1:p.Val300AspfsTer7
ENST00000643737.1:c.*1298_*1299del	ENSP00000494210.1:n.*1298_*1299del
ENST00000644595.1:c.1217_1218del	ENSP00000494121.1:p.Val406AspfsTer7
ENST00000644629.1:c.877_878del
ENST00000644841.1:c.845_846del	ENSP00000493988.1:p.Val282AspfsTer7
ENST00000644959.1:c.1186_1187del
ENST00000645553.1:c.1232_1233del	ENSP00000494725.1:p.Val411AspfsTer7
ENST00000646085.1:c.*695_*696del	ENSP00000494509.1:n.*695_*696del
ENST00000646277.1:c.1382_1383del	ENSP00000495289.1:p.Val461AspfsTer7
ENST00000646544.1:c.205_206del
ENST00000646699.1:c.1156_1157del
ENST00000646793.1:c.1109_1110del	ENSP00000494512.1:p.Val370AspfsTer7
ENST00000361150.6:c.1220_1221del	ENSP00000354781.2:p.Val407AspfsTer7
ENST00000361510.6:c.1382_1383del	ENSP00000355324.2:p.Val461AspfsTer7
ENST00000361715.6:c.1274_1275del	ENSP00000355311.2:p.Val425AspfsTer7
ENST00000361828.6:c.1271_1272del	ENSP00000354429.2:p.Val424AspfsTer7
ENST00000361908.7:c.1328_1329del	ENSP00000354681.3:p.Val443AspfsTer7
ENST00000392438.7:c.1217_1218del	ENSP00000376233.3:p.Val406AspfsTer7
ENST00000475899.1:n.413_414del
NM_015560.2:c.1217_1218del , LRG_337t1:c.1217_1218del	NP_056375.2:p.Val406AspfsTer7
NM_130831.2:c.1109_1110del	NP_570844.1:p.Val370AspfsTer7
NM_130832.2:c.1163_1164del	NP_570845.1:p.Val388AspfsTer7
NM_130833.2:c.1220_1221del	NP_570846.1:p.Val407AspfsTer7
NM_130834.2:c.1271_1272del	NP_570847.2:p.Val424AspfsTer7
NM_130835.2:c.1274_1275del	NP_570848.1:p.Val425AspfsTer7
NM_130836.2:c.1328_1329del	NP_570849.2:p.Val443AspfsTer7
NM_130837.2:c.1382_1383del , LRG_337t2:c.1382_1383del	NP_570850.2:p.Val461AspfsTer7
XM_011512863.1:c.1382_1383del	XP_011511165.1:p.Val461AspfsTer7
XM_011512864.1:c.1328_1329del	XP_011511166.1:p.Val443AspfsTer7
XM_011512865.1:c.1271_1272del	XP_011511167.1:p.Val424AspfsTer7
XM_011512866.1:c.1220_1221del	XP_011511168.1:p.Val407AspfsTer7
XM_011512867.1:c.1217_1218del	XP_011511169.1:p.Val406AspfsTer7
XM_011512868.1:c.1109_1110del	XP_011511170.1:p.Val370AspfsTer7
XM_011512869.1:c.1382_1383del	XP_011511171.1:p.Val461AspfsTer7
NM_001354663.1:c.848_849del	NP_001341592.1:p.Val283AspfsTer7
NM_001354664.1:c.845_846del	NP_001341593.1:p.Val282AspfsTer7
XR_001740158.2:n.1611_1612del
XR_001740159.2:n.1446_1447del
NM_001354663.2:c.848_849del	NP_001341592.1:p.Val283AspfsTer7
NM_001354664.2:c.845_846del	NP_001341593.1:p.Val282AspfsTer7
NM_130831.3:c.1109_1110del	NP_570844.1:p.Val370AspfsTer7
NM_130832.3:c.1163_1164del	NP_570845.1:p.Val388AspfsTer7
NM_130834.3:c.1271_1272del	NP_570847.2:p.Val424AspfsTer7
NM_130836.3:c.1328_1329del	NP_570849.2:p.Val443AspfsTer7
NM_015560.3:c.1217_1218del	NP_056375.2:p.Val406AspfsTer7
NM_130833.3:c.1220_1221del	NP_570846.1:p.Val407AspfsTer7
NM_130835.3:c.1274_1275del	NP_570848.1:p.Val425AspfsTer7
NM_130837.3:c.1382_1383del MANE Select	NP_570850.2:p.Val461AspfsTer7