Canonical Allele Identifier: CA2577995045

Gene: OPA1

Linked Data

• gnomAD v4: 3-193643389-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643393del , CM000665.2:g.193643393del	GRCh38
NC_000003.11:g.193361182del , CM000665.1:g.193361182del	GRCh37
NC_000003.10:g.194843876del	NCBI36
NG_011605.1:g.55250del , LRG_337:g.55250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1326del MANE Select	ENSP00000355324.2:p.Gly443AlafsTer15
ENST00000361828.7:c.1161del	ENSP00000354429.3:p.Gly388AlafsTer15
ENST00000361908.8:c.1272del	ENSP00000354681.3:p.Gly425AlafsTer15
ENST00000392436.7:c.1161del	ENSP00000376231.3:p.Gly388AlafsTer15
ENST00000392437.6:c.1215del	ENSP00000376232.2:p.Gly406AlafsTer15
ENST00000642289.1:c.1100del
ENST00000642445.1:c.1161del	ENSP00000495535.1:p.Gly388AlafsTer15
ENST00000642593.1:c.1161del	ENSP00000494273.1:p.Gly388AlafsTer15
ENST00000643329.1:c.843del	ENSP00000493673.1:p.Gly282AlafsTer15
ENST00000643737.1:c.*1242del	ENSP00000494210.1:n.*1242del
ENST00000644595.1:c.1161del	ENSP00000494121.1:p.Gly388AlafsTer15
ENST00000644629.1:c.821del
ENST00000644841.1:c.789del	ENSP00000493988.1:p.Gly264AlafsTer15
ENST00000644959.1:c.1130del
ENST00000645553.1:c.1176del	ENSP00000494725.1:p.Gly393AlafsTer15
ENST00000646085.1:c.*639del	ENSP00000494509.1:n.*639del
ENST00000646277.1:c.1326del	ENSP00000495289.1:p.Gly443AlafsTer15
ENST00000646544.1:c.149del
ENST00000646699.1:c.1100del
ENST00000646793.1:c.1053del	ENSP00000494512.1:p.Gly352AlafsTer15
ENST00000361150.6:c.1164del	ENSP00000354781.2:p.Gly389AlafsTer15
ENST00000361510.6:c.1326del	ENSP00000355324.2:p.Gly443AlafsTer15
ENST00000361715.6:c.1218del	ENSP00000355311.2:p.Gly407AlafsTer15
ENST00000361828.6:c.1215del	ENSP00000354429.2:p.Gly406AlafsTer15
ENST00000361908.7:c.1272del	ENSP00000354681.3:p.Gly425AlafsTer15
ENST00000392438.7:c.1161del	ENSP00000376233.3:p.Gly388AlafsTer15
ENST00000475899.1:n.357del
NM_015560.2:c.1161del , LRG_337t1:c.1161del	NP_056375.2:p.Gly388AlafsTer15
NM_130831.2:c.1053del	NP_570844.1:p.Gly352AlafsTer15
NM_130832.2:c.1107del	NP_570845.1:p.Gly370AlafsTer15
NM_130833.2:c.1164del	NP_570846.1:p.Gly389AlafsTer15
NM_130834.2:c.1215del	NP_570847.2:p.Gly406AlafsTer15
NM_130835.2:c.1218del	NP_570848.1:p.Gly407AlafsTer15
NM_130836.2:c.1272del	NP_570849.2:p.Gly425AlafsTer15
NM_130837.2:c.1326del , LRG_337t2:c.1326del	NP_570850.2:p.Gly443AlafsTer15
XM_011512863.1:c.1326del	XP_011511165.1:p.Gly443AlafsTer15
XM_011512864.1:c.1272del	XP_011511166.1:p.Gly425AlafsTer15
XM_011512865.1:c.1215del	XP_011511167.1:p.Gly406AlafsTer15
XM_011512866.1:c.1164del	XP_011511168.1:p.Gly389AlafsTer15
XM_011512867.1:c.1161del	XP_011511169.1:p.Gly388AlafsTer15
XM_011512868.1:c.1053del	XP_011511170.1:p.Gly352AlafsTer15
XM_011512869.1:c.1326del	XP_011511171.1:p.Gly443AlafsTer15
NM_001354663.1:c.792del	NP_001341592.1:p.Gly265AlafsTer15
NM_001354664.1:c.789del	NP_001341593.1:p.Gly264AlafsTer15
XR_001740158.2:n.1555del
XR_001740159.2:n.1390del
NM_001354663.2:c.792del	NP_001341592.1:p.Gly265AlafsTer15
NM_001354664.2:c.789del	NP_001341593.1:p.Gly264AlafsTer15
NM_130831.3:c.1053del	NP_570844.1:p.Gly352AlafsTer15
NM_130832.3:c.1107del	NP_570845.1:p.Gly370AlafsTer15
NM_130834.3:c.1215del	NP_570847.2:p.Gly406AlafsTer15
NM_130836.3:c.1272del	NP_570849.2:p.Gly425AlafsTer15
NM_015560.3:c.1161del	NP_056375.2:p.Gly388AlafsTer15
NM_130833.3:c.1164del	NP_570846.1:p.Gly389AlafsTer15
NM_130835.3:c.1218del	NP_570848.1:p.Gly407AlafsTer15
NM_130837.3:c.1326del MANE Select	NP_570850.2:p.Gly443AlafsTer15