Canonical Allele Identifier: CA1430250464

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647045_193647061delinsTTGTTATTTTTTTTTAA , CM000665.2:g.193647045_193647061delinsTTGTTATTTTTTTTTAA	GRCh38
NC_000003.11:g.193364834_193364850delinsTTGTTATTTTTTTTTAA , CM000665.1:g.193364834_193364850delinsTTGTTATTTTTTTTTAA	GRCh37
NC_000003.10:g.194847528_194847544delinsTTGTTATTTTTTTTTAA	NCBI36
NG_011605.1:g.58902_58918delinsTTGTTATTTTTTTTTAA , LRG_337:g.58902_58918delinsTTGTTATTTTTTTTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA MANE Select	ENSP00000355324.2:n.1755-20_1755-4delinsT...
ENST00000361828.7:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000354429.3:n.1590-20_1590-4delinsT...
ENST00000361908.8:c.1701-20_1701-4delinsTTGTTATTTTTTTTTAA	ENSP00000354681.3:n.1701-20_1701-4delinsT...
ENST00000392436.7:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000376231.3:n.1590-20_1590-4delinsT...
ENST00000392437.6:c.1644-20_1644-4delinsTTGTTATTTTTTTTTAA	ENSP00000376232.2:n.1644-20_1644-4delinsT...
ENST00000642289.1:c.1529-20_1529-4delinsTTGTTATTTTTTTTTAA
ENST00000642445.1:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000495535.1:n.1590-20_1590-4delinsT...
ENST00000642593.1:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000494273.1:n.1590-20_1590-4delinsT...
ENST00000643329.1:c.1272-20_1272-4delinsTTGTTATTTTTTTTTAA	ENSP00000493673.1:n.1272-20_1272-4delinsT...
ENST00000643737.1:c.*1671-20_*1671-4delinsTTGTTATTTTTTTTTAA	ENSP00000494210.1:n.*1671-20_*1671-4delin...
ENST00000644595.1:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000494121.1:n.1590-20_1590-4delinsT...
ENST00000644629.1:c.1177-20_1177-4delinsTTGTTATTTTTTTTTAA
ENST00000644841.1:c.*74-20_*74-4delinsTTGTTATTTTTTTTTAA	ENSP00000493988.1:n.*74-20_*74-4delinsTTG...
ENST00000644959.1:c.1559-20_1559-4delinsTTGTTATTTTTTTTTAA
ENST00000645553.1:c.1605-20_1605-4delinsTTGTTATTTTTTTTTAA	ENSP00000494725.1:n.1605-20_1605-4delinsT...
ENST00000646085.1:c.*1068-20_*1068-4delinsTTGTTATTTTTTTTTAA	ENSP00000494509.1:n.*1068-20_*1068-4delin...
ENST00000646277.1:c.*191-20_*191-4delinsTTGTTATTTTTTTTTAA	ENSP00000495289.1:n.*191-20_*191-4delinsT...
ENST00000646544.1:c.578-20_578-4delinsTTGTTATTTTTTTTTAA
ENST00000646699.1:c.1529-20_1529-4delinsTTGTTATTTTTTTTTAA
ENST00000646793.1:c.1482-20_1482-4delinsTTGTTATTTTTTTTTAA	ENSP00000494512.1:n.1482-20_1482-4delinsT...
ENST00000361150.6:c.1593-20_1593-4delinsTTGTTATTTTTTTTTAA	ENSP00000354781.2:n.1593-20_1593-4delinsT...
ENST00000361510.6:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA	ENSP00000355324.2:n.1755-20_1755-4delinsT...
ENST00000361715.6:c.1647-20_1647-4delinsTTGTTATTTTTTTTTAA	ENSP00000355311.2:n.1647-20_1647-4delinsT...
ENST00000361828.6:c.1644-20_1644-4delinsTTGTTATTTTTTTTTAA	ENSP00000354429.2:n.1644-20_1644-4delinsT...
ENST00000361908.7:c.1701-20_1701-4delinsTTGTTATTTTTTTTTAA	ENSP00000354681.3:n.1701-20_1701-4delinsT...
ENST00000392438.7:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	ENSP00000376233.3:n.1590-20_1590-4delinsT...
ENST00000483516.1:n.88-20_88-4delinsTTGTTATTTTTTTTTAA
NM_015560.2:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA , LRG_337t1:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	NP_056375.2:n.1590-20_1590-4delinsTTGTTAT...
NM_130831.2:c.1482-20_1482-4delinsTTGTTATTTTTTTTTAA	NP_570844.1:n.1482-20_1482-4delinsTTGTTAT...
NM_130832.2:c.1536-20_1536-4delinsTTGTTATTTTTTTTTAA	NP_570845.1:n.1536-20_1536-4delinsTTGTTAT...
NM_130833.2:c.1593-20_1593-4delinsTTGTTATTTTTTTTTAA	NP_570846.1:n.1593-20_1593-4delinsTTGTTAT...
NM_130834.2:c.1644-20_1644-4delinsTTGTTATTTTTTTTTAA	NP_570847.2:n.1644-20_1644-4delinsTTGTTAT...
NM_130835.2:c.1647-20_1647-4delinsTTGTTATTTTTTTTTAA	NP_570848.1:n.1647-20_1647-4delinsTTGTTAT...
NM_130836.2:c.1701-20_1701-4delinsTTGTTATTTTTTTTTAA	NP_570849.2:n.1701-20_1701-4delinsTTGTTAT...
NM_130837.2:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA , LRG_337t2:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA	NP_570850.2:n.1755-20_1755-4delinsTTGTTAT...
XM_011512863.1:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA	XP_011511165.1:n.1755-20_1755-4delinsTTGT...
XM_011512864.1:c.1701-20_1701-4delinsTTGTTATTTTTTTTTAA	XP_011511166.1:n.1701-20_1701-4delinsTTGT...
XM_011512865.1:c.1644-20_1644-4delinsTTGTTATTTTTTTTTAA	XP_011511167.1:n.1644-20_1644-4delinsTTGT...
XM_011512866.1:c.1593-20_1593-4delinsTTGTTATTTTTTTTTAA	XP_011511168.1:n.1593-20_1593-4delinsTTGT...
XM_011512867.1:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	XP_011511169.1:n.1590-20_1590-4delinsTTGT...
XM_011512868.1:c.1482-20_1482-4delinsTTGTTATTTTTTTTTAA	XP_011511170.1:n.1482-20_1482-4delinsTTGT...
XM_011512869.1:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA	XP_011511171.1:n.1755-20_1755-4delinsTTGT...
NM_001354663.1:c.1221-20_1221-4delinsTTGTTATTTTTTTTTAA	NP_001341592.1:n.1221-20_1221-4delinsTTGT...
NM_001354664.1:c.1218-20_1218-4delinsTTGTTATTTTTTTTTAA	NP_001341593.1:n.1218-20_1218-4delinsTTGT...
XR_001740158.2:n.1984-20_1984-4delinsTTGTTATTTTTTTTTAA
XR_001740159.2:n.1819-20_1819-4delinsTTGTTATTTTTTTTTAA
NM_001354663.2:c.1221-20_1221-4delinsTTGTTATTTTTTTTTAA	NP_001341592.1:n.1221-20_1221-4delinsTTGT...
NM_001354664.2:c.1218-20_1218-4delinsTTGTTATTTTTTTTTAA	NP_001341593.1:n.1218-20_1218-4delinsTTGT...
NM_130831.3:c.1482-20_1482-4delinsTTGTTATTTTTTTTTAA	NP_570844.1:n.1482-20_1482-4delinsTTGTTAT...
NM_130832.3:c.1536-20_1536-4delinsTTGTTATTTTTTTTTAA	NP_570845.1:n.1536-20_1536-4delinsTTGTTAT...
NM_130834.3:c.1644-20_1644-4delinsTTGTTATTTTTTTTTAA	NP_570847.2:n.1644-20_1644-4delinsTTGTTAT...
NM_130836.3:c.1701-20_1701-4delinsTTGTTATTTTTTTTTAA	NP_570849.2:n.1701-20_1701-4delinsTTGTTAT...
NM_015560.3:c.1590-20_1590-4delinsTTGTTATTTTTTTTTAA	NP_056375.2:n.1590-20_1590-4delinsTTGTTAT...
NM_130833.3:c.1593-20_1593-4delinsTTGTTATTTTTTTTTAA	NP_570846.1:n.1593-20_1593-4delinsTTGTTAT...
NM_130835.3:c.1647-20_1647-4delinsTTGTTATTTTTTTTTAA	NP_570848.1:n.1647-20_1647-4delinsTTGTTAT...
NM_130837.3:c.1755-20_1755-4delinsTTGTTATTTTTTTTTAA MANE Select	NP_570850.2:n.1755-20_1755-4delinsTTGTTAT...