Canonical Allele Identifier: CA2586973380

Gene: OPA1

Linked Data

• gnomAD v4: 3-193659496-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659500dup , CM000665.2:g.193659500dup	GRCh38
NC_000003.11:g.193377289dup , CM000665.1:g.193377289dup	GRCh37
NC_000003.10:g.194859983dup	NCBI36
NG_011605.1:g.71357dup , LRG_337:g.71357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2459dup MANE Select	ENSP00000355324.2:p.Asn820LysfsTer26
ENST00000361828.7:c.2294dup	ENSP00000354429.3:p.Asn765LysfsTer26
ENST00000361908.8:c.2405dup	ENSP00000354681.3:p.Asn802LysfsTer26
ENST00000392436.7:c.2294dup	ENSP00000376231.3:p.Asn765LysfsTer26
ENST00000392437.6:c.2348dup	ENSP00000376232.2:p.Asn783LysfsTer26
ENST00000642289.1:c.2233dup
ENST00000642445.1:c.2294dup	ENSP00000495535.1:p.Asn765LysfsTer26
ENST00000642593.1:c.*519dup	ENSP00000494273.1:n.*519dup
ENST00000643329.1:c.1976dup	ENSP00000493673.1:p.Asn659LysfsTer26
ENST00000643737.1:c.*2375dup	ENSP00000494210.1:n.*2375dup
ENST00000644595.1:c.2294dup	ENSP00000494121.1:p.Asn765LysfsTer26
ENST00000644629.1:c.1881dup
ENST00000644841.1:c.*778dup	ENSP00000493988.1:n.*778dup
ENST00000644959.1:c.2288dup
ENST00000645553.1:c.2309dup	ENSP00000494725.1:p.Asn770LysfsTer26
ENST00000646085.1:c.*1772dup	ENSP00000494509.1:n.*1772dup
ENST00000646277.1:c.*895dup	ENSP00000495289.1:n.*895dup
ENST00000646544.1:c.1282dup
ENST00000646699.1:c.2233dup
ENST00000646793.1:c.2186dup	ENSP00000494512.1:p.Asn729LysfsTer26
ENST00000361150.6:c.2297dup	ENSP00000354781.2:p.Asn766LysfsTer26
ENST00000361510.6:c.2459dup	ENSP00000355324.2:p.Asn820LysfsTer26
ENST00000361715.6:c.2351dup	ENSP00000355311.2:p.Asn784LysfsTer26
ENST00000361828.6:c.2348dup	ENSP00000354429.2:p.Asn783LysfsTer26
ENST00000361908.7:c.2405dup	ENSP00000354681.3:p.Asn802LysfsTer26
ENST00000392438.7:c.2294dup	ENSP00000376233.3:p.Asn765LysfsTer26
ENST00000482865.1:n.553dup
NM_015560.2:c.2294dup , LRG_337t1:c.2294dup	NP_056375.2:p.Asn765LysfsTer26
NM_130831.2:c.2186dup	NP_570844.1:p.Asn729LysfsTer26
NM_130832.2:c.2240dup	NP_570845.1:p.Asn747LysfsTer26
NM_130833.2:c.2297dup	NP_570846.1:p.Asn766LysfsTer26
NM_130834.2:c.2348dup	NP_570847.2:p.Asn783LysfsTer26
NM_130835.2:c.2351dup	NP_570848.1:p.Asn784LysfsTer26
NM_130836.2:c.2405dup	NP_570849.2:p.Asn802LysfsTer26
NM_130837.2:c.2459dup , LRG_337t2:c.2459dup	NP_570850.2:p.Asn820LysfsTer26
XM_011512863.1:c.2459dup	XP_011511165.1:p.Asn820LysfsTer26
XM_011512864.1:c.2405dup	XP_011511166.1:p.Asn802LysfsTer26
XM_011512865.1:c.2348dup	XP_011511167.1:p.Asn783LysfsTer26
XM_011512866.1:c.2297dup	XP_011511168.1:p.Asn766LysfsTer26
XM_011512867.1:c.2294dup	XP_011511169.1:p.Asn765LysfsTer26
XM_011512868.1:c.2186dup	XP_011511170.1:p.Asn729LysfsTer26
XR_924835.1:n.582+9423dup
NM_001354663.1:c.1925dup	NP_001341592.1:p.Asn642LysfsTer26
NM_001354664.1:c.1922dup	NP_001341593.1:p.Asn641LysfsTer26
XR_001740158.2:n.2713dup
XR_001740159.2:n.2548dup
XR_001741074.1:n.475+11311dup
XR_924835.2:n.600+9423dup
NM_001354663.2:c.1925dup	NP_001341592.1:p.Asn642LysfsTer26
NM_001354664.2:c.1922dup	NP_001341593.1:p.Asn641LysfsTer26
NM_130831.3:c.2186dup	NP_570844.1:p.Asn729LysfsTer26
NM_130832.3:c.2240dup	NP_570845.1:p.Asn747LysfsTer26
NM_130834.3:c.2348dup	NP_570847.2:p.Asn783LysfsTer26
NM_130836.3:c.2405dup	NP_570849.2:p.Asn802LysfsTer26
NM_015560.3:c.2294dup	NP_056375.2:p.Asn765LysfsTer26
NM_130833.3:c.2297dup	NP_570846.1:p.Asn766LysfsTer26
NM_130835.3:c.2351dup	NP_570848.1:p.Asn784LysfsTer26
NM_130837.3:c.2459dup MANE Select	NP_570850.2:p.Asn820LysfsTer26