Canonical Allele Identifier: CA2586973332

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647148_193647149del , CM000665.2:g.193647148_193647149del	GRCh38
NC_000003.11:g.193364937_193364938del , CM000665.1:g.193364937_193364938del	GRCh37
NC_000003.10:g.194847631_194847632del	NCBI36
NG_011605.1:g.59005_59006del , LRG_337:g.59005_59006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1838_1839del MANE Select	ENSP00000355324.2:p.Glu613ValfsTer3
ENST00000361828.7:c.1673_1674del	ENSP00000354429.3:p.Glu558ValfsTer3
ENST00000361908.8:c.1784_1785del	ENSP00000354681.3:p.Glu595ValfsTer3
ENST00000392436.7:c.1673_1674del	ENSP00000376231.3:p.Glu558ValfsTer3
ENST00000392437.6:c.1727_1728del	ENSP00000376232.2:p.Glu576ValfsTer3
ENST00000642289.1:c.1612_1613del
ENST00000642445.1:c.1673_1674del	ENSP00000495535.1:p.Glu558ValfsTer3
ENST00000642593.1:c.1673_1674del	ENSP00000494273.1:p.Glu558ValfsTer3
ENST00000643329.1:c.1355_1356del	ENSP00000493673.1:p.Glu452ValfsTer3
ENST00000643737.1:c.*1754_*1755del	ENSP00000494210.1:n.*1754_*1755del
ENST00000644595.1:c.1673_1674del	ENSP00000494121.1:p.Glu558ValfsTer3
ENST00000644629.1:c.1260_1261del
ENST00000644841.1:c.*157_*158del	ENSP00000493988.1:n.*157_*158del
ENST00000644959.1:c.1642_1643del
ENST00000645553.1:c.1688_1689del	ENSP00000494725.1:p.Glu563ValfsTer3
ENST00000646085.1:c.*1151_*1152del	ENSP00000494509.1:n.*1151_*1152del
ENST00000646277.1:c.*274_*275del	ENSP00000495289.1:n.*274_*275del
ENST00000646544.1:c.661_662del
ENST00000646699.1:c.1612_1613del
ENST00000646793.1:c.1565_1566del	ENSP00000494512.1:p.Glu522ValfsTer3
ENST00000361150.6:c.1676_1677del	ENSP00000354781.2:p.Glu559ValfsTer3
ENST00000361510.6:c.1838_1839del	ENSP00000355324.2:p.Glu613ValfsTer3
ENST00000361715.6:c.1730_1731del	ENSP00000355311.2:p.Glu577ValfsTer3
ENST00000361828.6:c.1727_1728del	ENSP00000354429.2:p.Glu576ValfsTer3
ENST00000361908.7:c.1784_1785del	ENSP00000354681.3:p.Glu595ValfsTer3
ENST00000392438.7:c.1673_1674del	ENSP00000376233.3:p.Glu558ValfsTer3
ENST00000483516.1:n.171_172del
NM_015560.2:c.1673_1674del , LRG_337t1:c.1673_1674del	NP_056375.2:p.Glu558ValfsTer3
NM_130831.2:c.1565_1566del	NP_570844.1:p.Glu522ValfsTer3
NM_130832.2:c.1619_1620del	NP_570845.1:p.Glu540ValfsTer3
NM_130833.2:c.1676_1677del	NP_570846.1:p.Glu559ValfsTer3
NM_130834.2:c.1727_1728del	NP_570847.2:p.Glu576ValfsTer3
NM_130835.2:c.1730_1731del	NP_570848.1:p.Glu577ValfsTer3
NM_130836.2:c.1784_1785del	NP_570849.2:p.Glu595ValfsTer3
NM_130837.2:c.1838_1839del , LRG_337t2:c.1838_1839del	NP_570850.2:p.Glu613ValfsTer3
XM_011512863.1:c.1838_1839del	XP_011511165.1:p.Glu613ValfsTer3
XM_011512864.1:c.1784_1785del	XP_011511166.1:p.Glu595ValfsTer3
XM_011512865.1:c.1727_1728del	XP_011511167.1:p.Glu576ValfsTer3
XM_011512866.1:c.1676_1677del	XP_011511168.1:p.Glu559ValfsTer3
XM_011512867.1:c.1673_1674del	XP_011511169.1:p.Glu558ValfsTer3
XM_011512868.1:c.1565_1566del	XP_011511170.1:p.Glu522ValfsTer3
XM_011512869.1:c.1838_1839del	XP_011511171.1:p.Glu613ValfsTer3
NM_001354663.1:c.1304_1305del	NP_001341592.1:p.Glu435ValfsTer3
NM_001354664.1:c.1301_1302del	NP_001341593.1:p.Glu434ValfsTer3
XR_001740158.2:n.2067_2068del
XR_001740159.2:n.1902_1903del
NM_001354663.2:c.1304_1305del	NP_001341592.1:p.Glu435ValfsTer3
NM_001354664.2:c.1301_1302del	NP_001341593.1:p.Glu434ValfsTer3
NM_130831.3:c.1565_1566del	NP_570844.1:p.Glu522ValfsTer3
NM_130832.3:c.1619_1620del	NP_570845.1:p.Glu540ValfsTer3
NM_130834.3:c.1727_1728del	NP_570847.2:p.Glu576ValfsTer3
NM_130836.3:c.1784_1785del	NP_570849.2:p.Glu595ValfsTer3
NM_015560.3:c.1673_1674del	NP_056375.2:p.Glu558ValfsTer3
NM_130833.3:c.1676_1677del	NP_570846.1:p.Glu559ValfsTer3
NM_130835.3:c.1730_1731del	NP_570848.1:p.Glu577ValfsTer3
NM_130837.3:c.1838_1839del MANE Select	NP_570850.2:p.Glu613ValfsTer3