Canonical Allele Identifier: CA2586973488

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647095_193647097del , CM000665.2:g.193647095_193647097del	GRCh38
NC_000003.11:g.193364884_193364886del , CM000665.1:g.193364884_193364886del	GRCh37
NC_000003.10:g.194847578_194847580del	NCBI36
NG_011605.1:g.58952_58954del , LRG_337:g.58952_58954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1785_1787del MANE Select	ENSP00000355324.2:p.Thr596del
ENST00000361828.7:c.1620_1622del	ENSP00000354429.3:p.Thr541del
ENST00000361908.8:c.1731_1733del	ENSP00000354681.3:p.Thr578del
ENST00000392436.7:c.1620_1622del	ENSP00000376231.3:p.Thr541del
ENST00000392437.6:c.1674_1676del	ENSP00000376232.2:p.Thr559del
ENST00000642289.1:c.1559_1561del
ENST00000642445.1:c.1620_1622del	ENSP00000495535.1:p.Thr541del
ENST00000642593.1:c.1620_1622del	ENSP00000494273.1:p.Thr541del
ENST00000643329.1:c.1302_1304del	ENSP00000493673.1:p.Thr435del
ENST00000643737.1:c.*1701_*1703del	ENSP00000494210.1:n.*1701_*1703del
ENST00000644595.1:c.1620_1622del	ENSP00000494121.1:p.Thr541del
ENST00000644629.1:c.1207_1209del
ENST00000644841.1:c.*104_*106del	ENSP00000493988.1:n.*104_*106del
ENST00000644959.1:c.1589_1591del
ENST00000645553.1:c.1635_1637del	ENSP00000494725.1:p.Thr546del
ENST00000646085.1:c.*1098_*1100del	ENSP00000494509.1:n.*1098_*1100del
ENST00000646277.1:c.*221_*223del	ENSP00000495289.1:n.*221_*223del
ENST00000646544.1:c.608_610del
ENST00000646699.1:c.1559_1561del
ENST00000646793.1:c.1512_1514del	ENSP00000494512.1:p.Thr505del
ENST00000361150.6:c.1623_1625del	ENSP00000354781.2:p.Thr542del
ENST00000361510.6:c.1785_1787del	ENSP00000355324.2:p.Thr596del
ENST00000361715.6:c.1677_1679del	ENSP00000355311.2:p.Thr560del
ENST00000361828.6:c.1674_1676del	ENSP00000354429.2:p.Thr559del
ENST00000361908.7:c.1731_1733del	ENSP00000354681.3:p.Thr578del
ENST00000392438.7:c.1620_1622del	ENSP00000376233.3:p.Thr541del
ENST00000483516.1:n.118_120del
NM_015560.2:c.1620_1622del , LRG_337t1:c.1620_1622del	NP_056375.2:p.Thr541del
NM_130831.2:c.1512_1514del	NP_570844.1:p.Thr505del
NM_130832.2:c.1566_1568del	NP_570845.1:p.Thr523del
NM_130833.2:c.1623_1625del	NP_570846.1:p.Thr542del
NM_130834.2:c.1674_1676del	NP_570847.2:p.Thr559del
NM_130835.2:c.1677_1679del	NP_570848.1:p.Thr560del
NM_130836.2:c.1731_1733del	NP_570849.2:p.Thr578del
NM_130837.2:c.1785_1787del , LRG_337t2:c.1785_1787del	NP_570850.2:p.Thr596del
XM_011512863.1:c.1785_1787del	XP_011511165.1:p.Thr596del
XM_011512864.1:c.1731_1733del	XP_011511166.1:p.Thr578del
XM_011512865.1:c.1674_1676del	XP_011511167.1:p.Thr559del
XM_011512866.1:c.1623_1625del	XP_011511168.1:p.Thr542del
XM_011512867.1:c.1620_1622del	XP_011511169.1:p.Thr541del
XM_011512868.1:c.1512_1514del	XP_011511170.1:p.Thr505del
XM_011512869.1:c.1785_1787del	XP_011511171.1:p.Thr596del
NM_001354663.1:c.1251_1253del	NP_001341592.1:p.Thr418del
NM_001354664.1:c.1248_1250del	NP_001341593.1:p.Thr417del
XR_001740158.2:n.2014_2016del
XR_001740159.2:n.1849_1851del
NM_001354663.2:c.1251_1253del	NP_001341592.1:p.Thr418del
NM_001354664.2:c.1248_1250del	NP_001341593.1:p.Thr417del
NM_130831.3:c.1512_1514del	NP_570844.1:p.Thr505del
NM_130832.3:c.1566_1568del	NP_570845.1:p.Thr523del
NM_130834.3:c.1674_1676del	NP_570847.2:p.Thr559del
NM_130836.3:c.1731_1733del	NP_570849.2:p.Thr578del
NM_015560.3:c.1620_1622del	NP_056375.2:p.Thr541del
NM_130833.3:c.1623_1625del	NP_570846.1:p.Thr542del
NM_130835.3:c.1677_1679del	NP_570848.1:p.Thr560del
NM_130837.3:c.1785_1787del MANE Select	NP_570850.2:p.Thr596del