Canonical Allele Identifier: CA2586973331

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647142_193647143dup , CM000665.2:g.193647142_193647143dup	GRCh38
NC_000003.11:g.193364931_193364932dup , CM000665.1:g.193364931_193364932dup	GRCh37
NC_000003.10:g.194847625_194847626dup	NCBI36
NG_011605.1:g.58999_59000dup , LRG_337:g.58999_59000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1832_1833dup MANE Select	ENSP00000355324.2:p.Arg612TyrfsTer?
ENST00000361828.7:c.1667_1668dup	ENSP00000354429.3:p.Arg557TyrfsTer?
ENST00000361908.8:c.1778_1779dup	ENSP00000354681.3:p.Arg594TyrfsTer?
ENST00000392436.7:c.1667_1668dup	ENSP00000376231.3:p.Arg557TyrfsTer?
ENST00000392437.6:c.1721_1722dup	ENSP00000376232.2:p.Arg575TyrfsTer?
ENST00000642289.1:c.1606_1607dup
ENST00000642445.1:c.1667_1668dup	ENSP00000495535.1:p.Arg557TyrfsTer?
ENST00000642593.1:c.1667_1668dup	ENSP00000494273.1:p.Arg557TyrfsTer?
ENST00000643329.1:c.1349_1350dup	ENSP00000493673.1:p.Arg451TyrfsTer?
ENST00000643737.1:c.*1748_*1749dup	ENSP00000494210.1:n.*1748_*1749dup
ENST00000644595.1:c.1667_1668dup	ENSP00000494121.1:p.Arg557TyrfsTer?
ENST00000644629.1:c.1254_1255dup
ENST00000644841.1:c.*151_*152dup	ENSP00000493988.1:n.*151_*152dup
ENST00000644959.1:c.1636_1637dup
ENST00000645553.1:c.1682_1683dup	ENSP00000494725.1:p.Arg562TyrfsTer?
ENST00000646085.1:c.*1145_*1146dup	ENSP00000494509.1:n.*1145_*1146dup
ENST00000646277.1:c.*268_*269dup	ENSP00000495289.1:n.*268_*269dup
ENST00000646544.1:c.655_656dup
ENST00000646699.1:c.1606_1607dup
ENST00000646793.1:c.1559_1560dup	ENSP00000494512.1:p.Arg521TyrfsTer?
ENST00000361150.6:c.1670_1671dup	ENSP00000354781.2:p.Arg558TyrfsTer?
ENST00000361510.6:c.1832_1833dup	ENSP00000355324.2:p.Arg612TyrfsTer?
ENST00000361715.6:c.1724_1725dup	ENSP00000355311.2:p.Arg576TyrfsTer?
ENST00000361828.6:c.1721_1722dup	ENSP00000354429.2:p.Arg575TyrfsTer?
ENST00000361908.7:c.1778_1779dup	ENSP00000354681.3:p.Arg594TyrfsTer?
ENST00000392438.7:c.1667_1668dup	ENSP00000376233.3:p.Arg557TyrfsTer?
ENST00000483516.1:n.165_166dup
NM_015560.2:c.1667_1668dup , LRG_337t1:c.1667_1668dup	NP_056375.2:p.Arg557TyrfsTer?
NM_130831.2:c.1559_1560dup	NP_570844.1:p.Arg521TyrfsTer?
NM_130832.2:c.1613_1614dup	NP_570845.1:p.Arg539TyrfsTer?
NM_130833.2:c.1670_1671dup	NP_570846.1:p.Arg558TyrfsTer?
NM_130834.2:c.1721_1722dup	NP_570847.2:p.Arg575TyrfsTer?
NM_130835.2:c.1724_1725dup	NP_570848.1:p.Arg576TyrfsTer?
NM_130836.2:c.1778_1779dup	NP_570849.2:p.Arg594TyrfsTer?
NM_130837.2:c.1832_1833dup , LRG_337t2:c.1832_1833dup	NP_570850.2:p.Arg612TyrfsTer?
XM_011512863.1:c.1832_1833dup	XP_011511165.1:p.Arg612TyrfsTer?
XM_011512864.1:c.1778_1779dup	XP_011511166.1:p.Arg594TyrfsTer?
XM_011512865.1:c.1721_1722dup	XP_011511167.1:p.Arg575TyrfsTer?
XM_011512866.1:c.1670_1671dup	XP_011511168.1:p.Arg558TyrfsTer?
XM_011512867.1:c.1667_1668dup	XP_011511169.1:p.Arg557TyrfsTer?
XM_011512868.1:c.1559_1560dup	XP_011511170.1:p.Arg521TyrfsTer?
XM_011512869.1:c.1832_1833dup	XP_011511171.1:p.Arg612TyrfsTer?
NM_001354663.1:c.1298_1299dup	NP_001341592.1:p.Arg434TyrfsTer?
NM_001354664.1:c.1295_1296dup	NP_001341593.1:p.Arg433TyrfsTer?
XR_001740158.2:n.2061_2062dup
XR_001740159.2:n.1896_1897dup
NM_001354663.2:c.1298_1299dup	NP_001341592.1:p.Arg434TyrfsTer?
NM_001354664.2:c.1295_1296dup	NP_001341593.1:p.Arg433TyrfsTer?
NM_130831.3:c.1559_1560dup	NP_570844.1:p.Arg521TyrfsTer?
NM_130832.3:c.1613_1614dup	NP_570845.1:p.Arg539TyrfsTer?
NM_130834.3:c.1721_1722dup	NP_570847.2:p.Arg575TyrfsTer?
NM_130836.3:c.1778_1779dup	NP_570849.2:p.Arg594TyrfsTer?
NM_015560.3:c.1667_1668dup	NP_056375.2:p.Arg557TyrfsTer?
NM_130833.3:c.1670_1671dup	NP_570846.1:p.Arg558TyrfsTer?
NM_130835.3:c.1724_1725dup	NP_570848.1:p.Arg576TyrfsTer?
NM_130837.3:c.1832_1833dup MANE Select	NP_570850.2:p.Arg612TyrfsTer?