Canonical Allele Identifier: CA2586973324

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647107_193647113del , CM000665.2:g.193647107_193647113del	GRCh38
NC_000003.11:g.193364896_193364902del , CM000665.1:g.193364896_193364902del	GRCh37
NC_000003.10:g.194847590_194847596del	NCBI36
NG_011605.1:g.58964_58970del , LRG_337:g.58964_58970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1797_1803del MANE Select	ENSP00000355324.2:p.Ser600GlnfsTer?
ENST00000361828.7:c.1632_1638del	ENSP00000354429.3:p.Ser545GlnfsTer?
ENST00000361908.8:c.1743_1749del	ENSP00000354681.3:p.Ser582GlnfsTer?
ENST00000392436.7:c.1632_1638del	ENSP00000376231.3:p.Ser545GlnfsTer?
ENST00000392437.6:c.1686_1692del	ENSP00000376232.2:p.Ser563GlnfsTer?
ENST00000642289.1:c.1571_1577del
ENST00000642445.1:c.1632_1638del	ENSP00000495535.1:p.Ser545GlnfsTer?
ENST00000642593.1:c.1632_1638del	ENSP00000494273.1:p.Ser545GlnfsTer?
ENST00000643329.1:c.1314_1320del	ENSP00000493673.1:p.Ser439GlnfsTer?
ENST00000643737.1:c.*1713_*1719del	ENSP00000494210.1:n.*1713_*1719del
ENST00000644595.1:c.1632_1638del	ENSP00000494121.1:p.Ser545GlnfsTer?
ENST00000644629.1:c.1219_1225del
ENST00000644841.1:c.*116_*122del	ENSP00000493988.1:n.*116_*122del
ENST00000644959.1:c.1601_1607del
ENST00000645553.1:c.1647_1653del	ENSP00000494725.1:p.Ser550GlnfsTer?
ENST00000646085.1:c.*1110_*1116del	ENSP00000494509.1:n.*1110_*1116del
ENST00000646277.1:c.*233_*239del	ENSP00000495289.1:n.*233_*239del
ENST00000646544.1:c.620_626del
ENST00000646699.1:c.1571_1577del
ENST00000646793.1:c.1524_1530del	ENSP00000494512.1:p.Ser509GlnfsTer?
ENST00000361150.6:c.1635_1641del	ENSP00000354781.2:p.Ser546GlnfsTer?
ENST00000361510.6:c.1797_1803del	ENSP00000355324.2:p.Ser600GlnfsTer?
ENST00000361715.6:c.1689_1695del	ENSP00000355311.2:p.Ser564GlnfsTer?
ENST00000361828.6:c.1686_1692del	ENSP00000354429.2:p.Ser563GlnfsTer?
ENST00000361908.7:c.1743_1749del	ENSP00000354681.3:p.Ser582GlnfsTer?
ENST00000392438.7:c.1632_1638del	ENSP00000376233.3:p.Ser545GlnfsTer?
ENST00000483516.1:n.130_136del
NM_015560.2:c.1632_1638del , LRG_337t1:c.1632_1638del	NP_056375.2:p.Ser545GlnfsTer?
NM_130831.2:c.1524_1530del	NP_570844.1:p.Ser509GlnfsTer?
NM_130832.2:c.1578_1584del	NP_570845.1:p.Ser527GlnfsTer?
NM_130833.2:c.1635_1641del	NP_570846.1:p.Ser546GlnfsTer?
NM_130834.2:c.1686_1692del	NP_570847.2:p.Ser563GlnfsTer?
NM_130835.2:c.1689_1695del	NP_570848.1:p.Ser564GlnfsTer?
NM_130836.2:c.1743_1749del	NP_570849.2:p.Ser582GlnfsTer?
NM_130837.2:c.1797_1803del , LRG_337t2:c.1797_1803del	NP_570850.2:p.Ser600GlnfsTer?
XM_011512863.1:c.1797_1803del	XP_011511165.1:p.Ser600GlnfsTer?
XM_011512864.1:c.1743_1749del	XP_011511166.1:p.Ser582GlnfsTer?
XM_011512865.1:c.1686_1692del	XP_011511167.1:p.Ser563GlnfsTer?
XM_011512866.1:c.1635_1641del	XP_011511168.1:p.Ser546GlnfsTer?
XM_011512867.1:c.1632_1638del	XP_011511169.1:p.Ser545GlnfsTer?
XM_011512868.1:c.1524_1530del	XP_011511170.1:p.Ser509GlnfsTer?
XM_011512869.1:c.1797_1803del	XP_011511171.1:p.Ser600GlnfsTer?
NM_001354663.1:c.1263_1269del	NP_001341592.1:p.Ser422GlnfsTer?
NM_001354664.1:c.1260_1266del	NP_001341593.1:p.Ser421GlnfsTer?
XR_001740158.2:n.2026_2032del
XR_001740159.2:n.1861_1867del
NM_001354663.2:c.1263_1269del	NP_001341592.1:p.Ser422GlnfsTer?
NM_001354664.2:c.1260_1266del	NP_001341593.1:p.Ser421GlnfsTer?
NM_130831.3:c.1524_1530del	NP_570844.1:p.Ser509GlnfsTer?
NM_130832.3:c.1578_1584del	NP_570845.1:p.Ser527GlnfsTer?
NM_130834.3:c.1686_1692del	NP_570847.2:p.Ser563GlnfsTer?
NM_130836.3:c.1743_1749del	NP_570849.2:p.Ser582GlnfsTer?
NM_015560.3:c.1632_1638del	NP_056375.2:p.Ser545GlnfsTer?
NM_130833.3:c.1635_1641del	NP_570846.1:p.Ser546GlnfsTer?
NM_130835.3:c.1689_1695del	NP_570848.1:p.Ser564GlnfsTer?
NM_130837.3:c.1797_1803del MANE Select	NP_570850.2:p.Ser600GlnfsTer?