Canonical Allele Identifier: CA2586973390

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667257_193667265del , CM000665.2:g.193667257_193667265del	GRCh38
NC_000003.11:g.193385046_193385054del , CM000665.1:g.193385046_193385054del	GRCh37
NC_000003.10:g.194867740_194867748del	NCBI36
NG_011605.1:g.79114_79122del , LRG_337:g.79114_79122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2960_2968del MANE Select	ENSP00000355324.2:p.Arg987_Gln989del
ENST00000361828.7:c.2795_2803del	ENSP00000354429.3:p.Arg932_Gln934del
ENST00000361908.8:c.2906_2914del	ENSP00000354681.3:p.Arg969_Gln971del
ENST00000392436.7:c.2795_2803del	ENSP00000376231.3:p.Arg932_Gln934del
ENST00000392437.6:c.2849_2857del	ENSP00000376232.2:p.Arg950_Gln952del
ENST00000642289.1:c.2734_2742del
ENST00000642445.1:c.2795_2803del	ENSP00000495535.1:p.Arg932_Gln934del
ENST00000642593.1:c.*1020_*1028del	ENSP00000494273.1:n.*1020_*1028del
ENST00000643329.1:c.2477_2485del	ENSP00000493673.1:p.Arg826_Gln828del
ENST00000643737.1:c.*2876_*2884del	ENSP00000494210.1:n.*2876_*2884del
ENST00000644595.1:c.2795_2803del	ENSP00000494121.1:p.Arg932_Gln934del
ENST00000644629.1:c.2382_2390del
ENST00000644841.1:c.*1279_*1287del	ENSP00000493988.1:n.*1279_*1287del
ENST00000644959.1:c.2789_2797del
ENST00000645553.1:c.2810_2818del	ENSP00000494725.1:p.Arg937_Gln939del
ENST00000646085.1:c.*2273_*2281del	ENSP00000494509.1:n.*2273_*2281del
ENST00000646277.1:c.*1396_*1404del	ENSP00000495289.1:n.*1396_*1404del
ENST00000646544.1:c.1783_1791del
ENST00000646699.1:c.2734_2742del
ENST00000646793.1:c.2687_2695del	ENSP00000494512.1:p.Arg896_Gln898del
ENST00000361150.6:c.2798_2806del	ENSP00000354781.2:p.Arg933_Gln935del
ENST00000361510.6:c.2960_2968del	ENSP00000355324.2:p.Arg987_Gln989del
ENST00000361715.6:c.2852_2860del	ENSP00000355311.2:p.Arg951_Gln953del
ENST00000361828.6:c.2849_2857del	ENSP00000354429.2:p.Arg950_Gln952del
ENST00000361908.7:c.2906_2914del	ENSP00000354681.3:p.Arg969_Gln971del
ENST00000392438.7:c.2795_2803del	ENSP00000376233.3:p.Arg932_Gln934del
ENST00000429164.1:c.82_90del
ENST00000445863.1:c.371_379del	ENSP00000398358.1:p.Arg124_Gln126del
NM_015560.2:c.2795_2803del , LRG_337t1:c.2795_2803del	NP_056375.2:p.Arg932_Gln934del
NM_130831.2:c.2687_2695del	NP_570844.1:p.Arg896_Gln898del
NM_130832.2:c.2741_2749del	NP_570845.1:p.Arg914_Gln916del
NM_130833.2:c.2798_2806del	NP_570846.1:p.Arg933_Gln935del
NM_130834.2:c.2849_2857del	NP_570847.2:p.Arg950_Gln952del
NM_130835.2:c.2852_2860del	NP_570848.1:p.Arg951_Gln953del
NM_130836.2:c.2906_2914del	NP_570849.2:p.Arg969_Gln971del
NM_130837.2:c.2960_2968del , LRG_337t2:c.2960_2968del	NP_570850.2:p.Arg987_Gln989del
XM_011512863.1:c.2960_2968del	XP_011511165.1:p.Arg987_Gln989del
XM_011512864.1:c.2906_2914del	XP_011511166.1:p.Arg969_Gln971del
XM_011512865.1:c.2849_2857del	XP_011511167.1:p.Arg950_Gln952del
XM_011512866.1:c.2798_2806del	XP_011511168.1:p.Arg933_Gln935del
XM_011512867.1:c.2795_2803del	XP_011511169.1:p.Arg932_Gln934del
XM_011512868.1:c.2687_2695del	XP_011511170.1:p.Arg896_Gln898del
XR_924835.1:n.582+1658_582+1666del
NM_001354663.1:c.2426_2434del	NP_001341592.1:p.Arg809_Gln811del
NM_001354664.1:c.2423_2431del	NP_001341593.1:p.Arg808_Gln810del
XR_001740158.2:n.3214_3222del
XR_001740159.2:n.3049_3057del
XR_001741072.1:n.600+1658_600+1666del
XR_001741074.1:n.475+3546_475+3554del
XR_924835.2:n.600+1658_600+1666del
NM_001354663.2:c.2426_2434del	NP_001341592.1:p.Arg809_Gln811del
NM_001354664.2:c.2423_2431del	NP_001341593.1:p.Arg808_Gln810del
NM_130831.3:c.2687_2695del	NP_570844.1:p.Arg896_Gln898del
NM_130832.3:c.2741_2749del	NP_570845.1:p.Arg914_Gln916del
NM_130834.3:c.2849_2857del	NP_570847.2:p.Arg950_Gln952del
NM_130836.3:c.2906_2914del	NP_570849.2:p.Arg969_Gln971del
NM_015560.3:c.2795_2803del	NP_056375.2:p.Arg932_Gln934del
NM_130833.3:c.2798_2806del	NP_570846.1:p.Arg933_Gln935del
NM_130835.3:c.2852_2860del	NP_570848.1:p.Arg951_Gln953del
NM_130837.3:c.2960_2968del MANE Select	NP_570850.2:p.Arg987_Gln989del