Canonical Allele Identifier: CA2573320600

Gene: OPA1

Linked Data

• gnomAD v4: 3-193667186-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667187_193667188insTTA , CM000665.2:g.193667187_193667188insTTA	GRCh38
NC_000003.11:g.193384976_193384977insTTA , CM000665.1:g.193384976_193384977insTTA	GRCh37
NC_000003.10:g.194867670_194867671insTTA	NCBI36
NG_011605.1:g.79044_79045insTTA , LRG_337:g.79044_79045insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2890_2891insTTA MANE Select	ENSP00000355324.2:p.Lys963_Asn964insIle
ENST00000361828.7:c.2725_2726insTTA	ENSP00000354429.3:p.Lys908_Asn909insIle
ENST00000361908.8:c.2836_2837insTTA	ENSP00000354681.3:p.Lys945_Asn946insIle
ENST00000392436.7:c.2725_2726insTTA	ENSP00000376231.3:p.Lys908_Asn909insIle
ENST00000392437.6:c.2779_2780insTTA	ENSP00000376232.2:p.Lys926_Asn927insIle
ENST00000642289.1:c.2664_2665insTTA
ENST00000642445.1:c.2725_2726insTTA	ENSP00000495535.1:p.Lys908_Asn909insIle
ENST00000642593.1:c.*950_*951insTTA	ENSP00000494273.1:n.*950_*951insTTA
ENST00000643329.1:c.2407_2408insTTA	ENSP00000493673.1:p.Lys802_Asn803insIle
ENST00000643737.1:c.*2806_*2807insTTA	ENSP00000494210.1:n.*2806_*2807insTTA
ENST00000644595.1:c.2725_2726insTTA	ENSP00000494121.1:p.Lys908_Asn909insIle
ENST00000644629.1:c.2312_2313insTTA
ENST00000644841.1:c.*1209_*1210insTTA	ENSP00000493988.1:n.*1209_*1210insTTA
ENST00000644959.1:c.2719_2720insTTA
ENST00000645553.1:c.2740_2741insTTA	ENSP00000494725.1:p.Lys913_Asn914insIle
ENST00000646085.1:c.*2203_*2204insTTA	ENSP00000494509.1:n.*2203_*2204insTTA
ENST00000646277.1:c.*1326_*1327insTTA	ENSP00000495289.1:n.*1326_*1327insTTA
ENST00000646544.1:c.1713_1714insTTA
ENST00000646699.1:c.2664_2665insTTA
ENST00000646793.1:c.2617_2618insTTA	ENSP00000494512.1:p.Lys872_Asn873insIle
ENST00000361150.6:c.2728_2729insTTA	ENSP00000354781.2:p.Lys909_Asn910insIle
ENST00000361510.6:c.2890_2891insTTA	ENSP00000355324.2:p.Lys963_Asn964insIle
ENST00000361715.6:c.2782_2783insTTA	ENSP00000355311.2:p.Lys927_Asn928insIle
ENST00000361828.6:c.2779_2780insTTA	ENSP00000354429.2:p.Lys926_Asn927insIle
ENST00000361908.7:c.2836_2837insTTA	ENSP00000354681.3:p.Lys945_Asn946insIle
ENST00000392438.7:c.2725_2726insTTA	ENSP00000376233.3:p.Lys908_Asn909insIle
ENST00000429164.1:c.12_13insTTA
ENST00000445863.1:c.301_302insTTA	ENSP00000398358.1:p.Lys100_Asn101insIle
NM_015560.2:c.2725_2726insTTA , LRG_337t1:c.2725_2726insTTA	NP_056375.2:p.Lys908_Asn909insIle
NM_130831.2:c.2617_2618insTTA	NP_570844.1:p.Lys872_Asn873insIle
NM_130832.2:c.2671_2672insTTA	NP_570845.1:p.Lys890_Asn891insIle
NM_130833.2:c.2728_2729insTTA	NP_570846.1:p.Lys909_Asn910insIle
NM_130834.2:c.2779_2780insTTA	NP_570847.2:p.Lys926_Asn927insIle
NM_130835.2:c.2782_2783insTTA	NP_570848.1:p.Lys927_Asn928insIle
NM_130836.2:c.2836_2837insTTA	NP_570849.2:p.Lys945_Asn946insIle
NM_130837.2:c.2890_2891insTTA , LRG_337t2:c.2890_2891insTTA	NP_570850.2:p.Lys963_Asn964insIle
XM_011512863.1:c.2890_2891insTTA	XP_011511165.1:p.Lys963_Asn964insIle
XM_011512864.1:c.2836_2837insTTA	XP_011511166.1:p.Lys945_Asn946insIle
XM_011512865.1:c.2779_2780insTTA	XP_011511167.1:p.Lys926_Asn927insIle
XM_011512866.1:c.2728_2729insTTA	XP_011511168.1:p.Lys909_Asn910insIle
XM_011512867.1:c.2725_2726insTTA	XP_011511169.1:p.Lys908_Asn909insIle
XM_011512868.1:c.2617_2618insTTA	XP_011511170.1:p.Lys872_Asn873insIle
XR_924835.1:n.582+1733_582+1734insAAT
NM_001354663.1:c.2356_2357insTTA	NP_001341592.1:p.Lys785_Asn786insIle
NM_001354664.1:c.2353_2354insTTA	NP_001341593.1:p.Lys784_Asn785insIle
XR_001740158.2:n.3144_3145insTTA
XR_001740159.2:n.2979_2980insTTA
XR_001741072.1:n.600+1733_600+1734insAAT
XR_001741074.1:n.475+3621_475+3622insAAT
XR_924835.2:n.600+1733_600+1734insAAT
NM_001354663.2:c.2356_2357insTTA	NP_001341592.1:p.Lys785_Asn786insIle
NM_001354664.2:c.2353_2354insTTA	NP_001341593.1:p.Lys784_Asn785insIle
NM_130831.3:c.2617_2618insTTA	NP_570844.1:p.Lys872_Asn873insIle
NM_130832.3:c.2671_2672insTTA	NP_570845.1:p.Lys890_Asn891insIle
NM_130834.3:c.2779_2780insTTA	NP_570847.2:p.Lys926_Asn927insIle
NM_130836.3:c.2836_2837insTTA	NP_570849.2:p.Lys945_Asn946insIle
NM_015560.3:c.2725_2726insTTA	NP_056375.2:p.Lys908_Asn909insIle
NM_130833.3:c.2728_2729insTTA	NP_570846.1:p.Lys909_Asn910insIle
NM_130835.3:c.2782_2783insTTA	NP_570848.1:p.Lys927_Asn928insIle
NM_130837.3:c.2890_2891insTTA MANE Select	NP_570850.2:p.Lys963_Asn964insIle