Canonical Allele Identifier: CA2586973328

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647127_193647129del , CM000665.2:g.193647127_193647129del	GRCh38
NC_000003.11:g.193364916_193364918del , CM000665.1:g.193364916_193364918del	GRCh37
NC_000003.10:g.194847610_194847612del	NCBI36
NG_011605.1:g.58984_58986del , LRG_337:g.58984_58986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1817_1819del MANE Select	ENSP00000355324.2:p.Cys606del
ENST00000361828.7:c.1652_1654del	ENSP00000354429.3:p.Cys551del
ENST00000361908.8:c.1763_1765del	ENSP00000354681.3:p.Cys588del
ENST00000392436.7:c.1652_1654del	ENSP00000376231.3:p.Cys551del
ENST00000392437.6:c.1706_1708del	ENSP00000376232.2:p.Cys569del
ENST00000642289.1:c.1591_1593del
ENST00000642445.1:c.1652_1654del	ENSP00000495535.1:p.Cys551del
ENST00000642593.1:c.1652_1654del	ENSP00000494273.1:p.Cys551del
ENST00000643329.1:c.1334_1336del	ENSP00000493673.1:p.Cys445del
ENST00000643737.1:c.*1733_*1735del	ENSP00000494210.1:n.*1733_*1735del
ENST00000644595.1:c.1652_1654del	ENSP00000494121.1:p.Cys551del
ENST00000644629.1:c.1239_1241del
ENST00000644841.1:c.*136_*138del	ENSP00000493988.1:n.*136_*138del
ENST00000644959.1:c.1621_1623del
ENST00000645553.1:c.1667_1669del	ENSP00000494725.1:p.Cys556del
ENST00000646085.1:c.*1130_*1132del	ENSP00000494509.1:n.*1130_*1132del
ENST00000646277.1:c.*253_*255del	ENSP00000495289.1:n.*253_*255del
ENST00000646544.1:c.640_642del
ENST00000646699.1:c.1591_1593del
ENST00000646793.1:c.1544_1546del	ENSP00000494512.1:p.Cys515del
ENST00000361150.6:c.1655_1657del	ENSP00000354781.2:p.Cys552del
ENST00000361510.6:c.1817_1819del	ENSP00000355324.2:p.Cys606del
ENST00000361715.6:c.1709_1711del	ENSP00000355311.2:p.Cys570del
ENST00000361828.6:c.1706_1708del	ENSP00000354429.2:p.Cys569del
ENST00000361908.7:c.1763_1765del	ENSP00000354681.3:p.Cys588del
ENST00000392438.7:c.1652_1654del	ENSP00000376233.3:p.Cys551del
ENST00000483516.1:n.150_152del
NM_015560.2:c.1652_1654del , LRG_337t1:c.1652_1654del	NP_056375.2:p.Cys551del
NM_130831.2:c.1544_1546del	NP_570844.1:p.Cys515del
NM_130832.2:c.1598_1600del	NP_570845.1:p.Cys533del
NM_130833.2:c.1655_1657del	NP_570846.1:p.Cys552del
NM_130834.2:c.1706_1708del	NP_570847.2:p.Cys569del
NM_130835.2:c.1709_1711del	NP_570848.1:p.Cys570del
NM_130836.2:c.1763_1765del	NP_570849.2:p.Cys588del
NM_130837.2:c.1817_1819del , LRG_337t2:c.1817_1819del	NP_570850.2:p.Cys606del
XM_011512863.1:c.1817_1819del	XP_011511165.1:p.Cys606del
XM_011512864.1:c.1763_1765del	XP_011511166.1:p.Cys588del
XM_011512865.1:c.1706_1708del	XP_011511167.1:p.Cys569del
XM_011512866.1:c.1655_1657del	XP_011511168.1:p.Cys552del
XM_011512867.1:c.1652_1654del	XP_011511169.1:p.Cys551del
XM_011512868.1:c.1544_1546del	XP_011511170.1:p.Cys515del
XM_011512869.1:c.1817_1819del	XP_011511171.1:p.Cys606del
NM_001354663.1:c.1283_1285del	NP_001341592.1:p.Cys428del
NM_001354664.1:c.1280_1282del	NP_001341593.1:p.Cys427del
XR_001740158.2:n.2046_2048del
XR_001740159.2:n.1881_1883del
NM_001354663.2:c.1283_1285del	NP_001341592.1:p.Cys428del
NM_001354664.2:c.1280_1282del	NP_001341593.1:p.Cys427del
NM_130831.3:c.1544_1546del	NP_570844.1:p.Cys515del
NM_130832.3:c.1598_1600del	NP_570845.1:p.Cys533del
NM_130834.3:c.1706_1708del	NP_570847.2:p.Cys569del
NM_130836.3:c.1763_1765del	NP_570849.2:p.Cys588del
NM_015560.3:c.1652_1654del	NP_056375.2:p.Cys551del
NM_130833.3:c.1655_1657del	NP_570846.1:p.Cys552del
NM_130835.3:c.1709_1711del	NP_570848.1:p.Cys570del
NM_130837.3:c.1817_1819del MANE Select	NP_570850.2:p.Cys606del