Canonical Allele Identifier: CA2586973329

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647132del , CM000665.2:g.193647132del	GRCh38
NC_000003.11:g.193364921del , CM000665.1:g.193364921del	GRCh37
NC_000003.10:g.194847615del	NCBI36
NG_011605.1:g.58989del , LRG_337:g.58989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1822del MANE Select	ENSP00000355324.2:p.Trp608GlyfsTer?
ENST00000361828.7:c.1657del	ENSP00000354429.3:p.Trp553GlyfsTer?
ENST00000361908.8:c.1768del	ENSP00000354681.3:p.Trp590GlyfsTer?
ENST00000392436.7:c.1657del	ENSP00000376231.3:p.Trp553GlyfsTer?
ENST00000392437.6:c.1711del	ENSP00000376232.2:p.Trp571GlyfsTer?
ENST00000642289.1:c.1596del
ENST00000642445.1:c.1657del	ENSP00000495535.1:p.Trp553GlyfsTer?
ENST00000642593.1:c.1657del	ENSP00000494273.1:p.Trp553GlyfsTer?
ENST00000643329.1:c.1339del	ENSP00000493673.1:p.Trp447GlyfsTer?
ENST00000643737.1:c.*1738del	ENSP00000494210.1:n.*1738del
ENST00000644595.1:c.1657del	ENSP00000494121.1:p.Trp553GlyfsTer?
ENST00000644629.1:c.1244del
ENST00000644841.1:c.*141del	ENSP00000493988.1:n.*141del
ENST00000644959.1:c.1626del
ENST00000645553.1:c.1672del	ENSP00000494725.1:p.Trp558GlyfsTer?
ENST00000646085.1:c.*1135del	ENSP00000494509.1:n.*1135del
ENST00000646277.1:c.*258del	ENSP00000495289.1:n.*258del
ENST00000646544.1:c.645del
ENST00000646699.1:c.1596del
ENST00000646793.1:c.1549del	ENSP00000494512.1:p.Trp517GlyfsTer?
ENST00000361150.6:c.1660del	ENSP00000354781.2:p.Trp554GlyfsTer?
ENST00000361510.6:c.1822del	ENSP00000355324.2:p.Trp608GlyfsTer?
ENST00000361715.6:c.1714del	ENSP00000355311.2:p.Trp572GlyfsTer?
ENST00000361828.6:c.1711del	ENSP00000354429.2:p.Trp571GlyfsTer?
ENST00000361908.7:c.1768del	ENSP00000354681.3:p.Trp590GlyfsTer?
ENST00000392438.7:c.1657del	ENSP00000376233.3:p.Trp553GlyfsTer?
ENST00000483516.1:n.155del
NM_015560.2:c.1657del , LRG_337t1:c.1657del	NP_056375.2:p.Trp553GlyfsTer?
NM_130831.2:c.1549del	NP_570844.1:p.Trp517GlyfsTer?
NM_130832.2:c.1603del	NP_570845.1:p.Trp535GlyfsTer?
NM_130833.2:c.1660del	NP_570846.1:p.Trp554GlyfsTer?
NM_130834.2:c.1711del	NP_570847.2:p.Trp571GlyfsTer?
NM_130835.2:c.1714del	NP_570848.1:p.Trp572GlyfsTer?
NM_130836.2:c.1768del	NP_570849.2:p.Trp590GlyfsTer?
NM_130837.2:c.1822del , LRG_337t2:c.1822del	NP_570850.2:p.Trp608GlyfsTer?
XM_011512863.1:c.1822del	XP_011511165.1:p.Trp608GlyfsTer?
XM_011512864.1:c.1768del	XP_011511166.1:p.Trp590GlyfsTer?
XM_011512865.1:c.1711del	XP_011511167.1:p.Trp571GlyfsTer?
XM_011512866.1:c.1660del	XP_011511168.1:p.Trp554GlyfsTer?
XM_011512867.1:c.1657del	XP_011511169.1:p.Trp553GlyfsTer?
XM_011512868.1:c.1549del	XP_011511170.1:p.Trp517GlyfsTer?
XM_011512869.1:c.1822del	XP_011511171.1:p.Trp608GlyfsTer?
NM_001354663.1:c.1288del	NP_001341592.1:p.Trp430GlyfsTer?
NM_001354664.1:c.1285del	NP_001341593.1:p.Trp429GlyfsTer?
XR_001740158.2:n.2051del
XR_001740159.2:n.1886del
NM_001354663.2:c.1288del	NP_001341592.1:p.Trp430GlyfsTer?
NM_001354664.2:c.1285del	NP_001341593.1:p.Trp429GlyfsTer?
NM_130831.3:c.1549del	NP_570844.1:p.Trp517GlyfsTer?
NM_130832.3:c.1603del	NP_570845.1:p.Trp535GlyfsTer?
NM_130834.3:c.1711del	NP_570847.2:p.Trp571GlyfsTer?
NM_130836.3:c.1768del	NP_570849.2:p.Trp590GlyfsTer?
NM_015560.3:c.1657del	NP_056375.2:p.Trp553GlyfsTer?
NM_130833.3:c.1660del	NP_570846.1:p.Trp554GlyfsTer?
NM_130835.3:c.1714del	NP_570848.1:p.Trp572GlyfsTer?
NM_130837.3:c.1822del MANE Select	NP_570850.2:p.Trp608GlyfsTer?