Canonical Allele Identifier: CA1430243816

Gene: OPA1

Linked Data

• dbSNP Id: rs1733996130
• gnomAD v4: 3-193642900-TATAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642902_193642906del , CM000665.2:g.193642902_193642906del	GRCh38
NC_000003.11:g.193360691_193360695del , CM000665.1:g.193360691_193360695del	GRCh37
NC_000003.10:g.194843385_194843389del	NCBI36
NG_011605.1:g.54759_54763del , LRG_337:g.54759_54763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1230+57_1230+61del MANE Select	ENSP00000355324.2:n.1230+57_1230+61del
ENST00000361828.7:c.1065+57_1065+61del	ENSP00000354429.3:n.1065+57_1065+61del
ENST00000361908.8:c.1176+57_1176+61del	ENSP00000354681.3:n.1176+57_1176+61del
ENST00000392436.7:c.1065+57_1065+61del	ENSP00000376231.3:n.1065+57_1065+61del
ENST00000392437.6:c.1119+57_1119+61del	ENSP00000376232.2:n.1119+57_1119+61del
ENST00000642289.1:c.1080-471_1080-467del
ENST00000642445.1:c.1065+57_1065+61del	ENSP00000495535.1:n.1065+57_1065+61del
ENST00000642593.1:c.1065+57_1065+61del	ENSP00000494273.1:n.1065+57_1065+61del
ENST00000643329.1:c.747+57_747+61del	ENSP00000493673.1:n.747+57_747+61del
ENST00000643737.1:c.*1146+57_*1146+61del	ENSP00000494210.1:n.*1146+57_*1146+61del
ENST00000644595.1:c.1065+57_1065+61del	ENSP00000494121.1:n.1065+57_1065+61del
ENST00000644629.1:c.725+57_725+61del
ENST00000644841.1:c.693+57_693+61del	ENSP00000493988.1:n.693+57_693+61del
ENST00000644959.1:c.1034+57_1034+61del
ENST00000645553.1:c.1080+57_1080+61del	ENSP00000494725.1:n.1080+57_1080+61del
ENST00000646085.1:c.*543+57_*543+61del	ENSP00000494509.1:n.*543+57_*543+61del
ENST00000646277.1:c.1230+57_1230+61del	ENSP00000495289.1:n.1230+57_1230+61del
ENST00000646544.1:c.128+57_128+61del
ENST00000646699.1:c.1080-471_1080-467del
ENST00000646793.1:c.957+57_957+61del	ENSP00000494512.1:n.957+57_957+61del
ENST00000361150.6:c.1068+57_1068+61del	ENSP00000354781.2:n.1068+57_1068+61del
ENST00000361510.6:c.1230+57_1230+61del	ENSP00000355324.2:n.1230+57_1230+61del
ENST00000361715.6:c.1122+57_1122+61del	ENSP00000355311.2:n.1122+57_1122+61del
ENST00000361828.6:c.1119+57_1119+61del	ENSP00000354429.2:n.1119+57_1119+61del
ENST00000361908.7:c.1176+57_1176+61del	ENSP00000354681.3:n.1176+57_1176+61del
ENST00000392438.7:c.1065+57_1065+61del	ENSP00000376233.3:n.1065+57_1065+61del
ENST00000475899.1:n.261+57_261+61del
ENST00000497189.5:n.551+57_551+61del
NM_015560.2:c.1065+57_1065+61del , LRG_337t1:c.1065+57_1065+61del	NP_056375.2:n.1065+57_1065+61del
NM_130831.2:c.957+57_957+61del	NP_570844.1:n.957+57_957+61del
NM_130832.2:c.1011+57_1011+61del	NP_570845.1:n.1011+57_1011+61del
NM_130833.2:c.1068+57_1068+61del	NP_570846.1:n.1068+57_1068+61del
NM_130834.2:c.1119+57_1119+61del	NP_570847.2:n.1119+57_1119+61del
NM_130835.2:c.1122+57_1122+61del	NP_570848.1:n.1122+57_1122+61del
NM_130836.2:c.1176+57_1176+61del	NP_570849.2:n.1176+57_1176+61del
NM_130837.2:c.1230+57_1230+61del , LRG_337t2:c.1230+57_1230+61del	NP_570850.2:n.1230+57_1230+61del
XM_011512863.1:c.1230+57_1230+61del	XP_011511165.1:n.1230+57_1230+61del
XM_011512864.1:c.1176+57_1176+61del	XP_011511166.1:n.1176+57_1176+61del
XM_011512865.1:c.1119+57_1119+61del	XP_011511167.1:n.1119+57_1119+61del
XM_011512866.1:c.1068+57_1068+61del	XP_011511168.1:n.1068+57_1068+61del
XM_011512867.1:c.1065+57_1065+61del	XP_011511169.1:n.1065+57_1065+61del
XM_011512868.1:c.957+57_957+61del	XP_011511170.1:n.957+57_957+61del
XM_011512869.1:c.1230+57_1230+61del	XP_011511171.1:n.1230+57_1230+61del
NM_001354663.1:c.696+57_696+61del	NP_001341592.1:n.696+57_696+61del
NM_001354664.1:c.693+57_693+61del	NP_001341593.1:n.693+57_693+61del
XR_001740158.2:n.1459+57_1459+61del
XR_001740159.2:n.1294+57_1294+61del
NM_001354663.2:c.696+57_696+61del	NP_001341592.1:n.696+57_696+61del
NM_001354664.2:c.693+57_693+61del	NP_001341593.1:n.693+57_693+61del
NM_130831.3:c.957+57_957+61del	NP_570844.1:n.957+57_957+61del
NM_130832.3:c.1011+57_1011+61del	NP_570845.1:n.1011+57_1011+61del
NM_130834.3:c.1119+57_1119+61del	NP_570847.2:n.1119+57_1119+61del
NM_130836.3:c.1176+57_1176+61del	NP_570849.2:n.1176+57_1176+61del
NM_015560.3:c.1065+57_1065+61del	NP_056375.2:n.1065+57_1065+61del
NM_130833.3:c.1068+57_1068+61del	NP_570846.1:n.1068+57_1068+61del
NM_130835.3:c.1122+57_1122+61del	NP_570848.1:n.1122+57_1122+61del
NM_130837.3:c.1230+57_1230+61del MANE Select	NP_570850.2:n.1230+57_1230+61del