Canonical Allele Identifier: CA2586973325

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647116_193647128del , CM000665.2:g.193647116_193647128del	GRCh38
NC_000003.11:g.193364905_193364917del , CM000665.1:g.193364905_193364917del	GRCh37
NC_000003.10:g.194847599_194847611del	NCBI36
NG_011605.1:g.58973_58985del , LRG_337:g.58973_58985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1806_1818del MANE Select	ENSP00000355324.2:p.Val603PhefsTer?
ENST00000361828.7:c.1641_1653del	ENSP00000354429.3:p.Val548PhefsTer?
ENST00000361908.8:c.1752_1764del	ENSP00000354681.3:p.Val585PhefsTer?
ENST00000392436.7:c.1641_1653del	ENSP00000376231.3:p.Val548PhefsTer?
ENST00000392437.6:c.1695_1707del	ENSP00000376232.2:p.Val566PhefsTer?
ENST00000642289.1:c.1580_1592del
ENST00000642445.1:c.1641_1653del	ENSP00000495535.1:p.Val548PhefsTer?
ENST00000642593.1:c.1641_1653del	ENSP00000494273.1:p.Val548PhefsTer?
ENST00000643329.1:c.1323_1335del	ENSP00000493673.1:p.Val442PhefsTer?
ENST00000643737.1:c.*1722_*1734del	ENSP00000494210.1:n.*1722_*1734del
ENST00000644595.1:c.1641_1653del	ENSP00000494121.1:p.Val548PhefsTer?
ENST00000644629.1:c.1228_1240del
ENST00000644841.1:c.*125_*137del	ENSP00000493988.1:n.*125_*137del
ENST00000644959.1:c.1610_1622del
ENST00000645553.1:c.1656_1668del	ENSP00000494725.1:p.Val553PhefsTer?
ENST00000646085.1:c.*1119_*1131del	ENSP00000494509.1:n.*1119_*1131del
ENST00000646277.1:c.*242_*254del	ENSP00000495289.1:n.*242_*254del
ENST00000646544.1:c.629_641del
ENST00000646699.1:c.1580_1592del
ENST00000646793.1:c.1533_1545del	ENSP00000494512.1:p.Val512PhefsTer?
ENST00000361150.6:c.1644_1656del	ENSP00000354781.2:p.Val549PhefsTer?
ENST00000361510.6:c.1806_1818del	ENSP00000355324.2:p.Val603PhefsTer?
ENST00000361715.6:c.1698_1710del	ENSP00000355311.2:p.Val567PhefsTer?
ENST00000361828.6:c.1695_1707del	ENSP00000354429.2:p.Val566PhefsTer?
ENST00000361908.7:c.1752_1764del	ENSP00000354681.3:p.Val585PhefsTer?
ENST00000392438.7:c.1641_1653del	ENSP00000376233.3:p.Val548PhefsTer?
ENST00000483516.1:n.139_151del
NM_015560.2:c.1641_1653del , LRG_337t1:c.1641_1653del	NP_056375.2:p.Val548PhefsTer?
NM_130831.2:c.1533_1545del	NP_570844.1:p.Val512PhefsTer?
NM_130832.2:c.1587_1599del	NP_570845.1:p.Val530PhefsTer?
NM_130833.2:c.1644_1656del	NP_570846.1:p.Val549PhefsTer?
NM_130834.2:c.1695_1707del	NP_570847.2:p.Val566PhefsTer?
NM_130835.2:c.1698_1710del	NP_570848.1:p.Val567PhefsTer?
NM_130836.2:c.1752_1764del	NP_570849.2:p.Val585PhefsTer?
NM_130837.2:c.1806_1818del , LRG_337t2:c.1806_1818del	NP_570850.2:p.Val603PhefsTer?
XM_011512863.1:c.1806_1818del	XP_011511165.1:p.Val603PhefsTer?
XM_011512864.1:c.1752_1764del	XP_011511166.1:p.Val585PhefsTer?
XM_011512865.1:c.1695_1707del	XP_011511167.1:p.Val566PhefsTer?
XM_011512866.1:c.1644_1656del	XP_011511168.1:p.Val549PhefsTer?
XM_011512867.1:c.1641_1653del	XP_011511169.1:p.Val548PhefsTer?
XM_011512868.1:c.1533_1545del	XP_011511170.1:p.Val512PhefsTer?
XM_011512869.1:c.1806_1818del	XP_011511171.1:p.Val603PhefsTer?
NM_001354663.1:c.1272_1284del	NP_001341592.1:p.Val425PhefsTer?
NM_001354664.1:c.1269_1281del	NP_001341593.1:p.Val424PhefsTer?
XR_001740158.2:n.2035_2047del
XR_001740159.2:n.1870_1882del
NM_001354663.2:c.1272_1284del	NP_001341592.1:p.Val425PhefsTer?
NM_001354664.2:c.1269_1281del	NP_001341593.1:p.Val424PhefsTer?
NM_130831.3:c.1533_1545del	NP_570844.1:p.Val512PhefsTer?
NM_130832.3:c.1587_1599del	NP_570845.1:p.Val530PhefsTer?
NM_130834.3:c.1695_1707del	NP_570847.2:p.Val566PhefsTer?
NM_130836.3:c.1752_1764del	NP_570849.2:p.Val585PhefsTer?
NM_015560.3:c.1641_1653del	NP_056375.2:p.Val548PhefsTer?
NM_130833.3:c.1644_1656del	NP_570846.1:p.Val549PhefsTer?
NM_130835.3:c.1698_1710del	NP_570848.1:p.Val567PhefsTer?
NM_130837.3:c.1806_1818del MANE Select	NP_570850.2:p.Val603PhefsTer?