Canonical Allele Identifier: CA1430233527

Gene: OPA1

Linked Data

• dbSNP Id: rs1716768150

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667194_193667195del , CM000665.2:g.193667194_193667195del	GRCh38
NC_000003.11:g.193384983_193384984del , CM000665.1:g.193384983_193384984del	GRCh37
NC_000003.10:g.194867677_194867678del	NCBI36
NG_011605.1:g.79051_79052del , LRG_337:g.79051_79052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2897_2898del MANE Select	ENSP00000355324.2:p.Lys966ArgfsTer8
ENST00000361828.7:c.2732_2733del	ENSP00000354429.3:p.Lys911ArgfsTer8
ENST00000361908.8:c.2843_2844del	ENSP00000354681.3:p.Lys948ArgfsTer8
ENST00000392436.7:c.2732_2733del	ENSP00000376231.3:p.Lys911ArgfsTer8
ENST00000392437.6:c.2786_2787del	ENSP00000376232.2:p.Lys929ArgfsTer8
ENST00000642289.1:c.2671_2672del
ENST00000642445.1:c.2732_2733del	ENSP00000495535.1:p.Lys911ArgfsTer8
ENST00000642593.1:c.*957_*958del	ENSP00000494273.1:n.*957_*958del
ENST00000643329.1:c.2414_2415del	ENSP00000493673.1:p.Lys805ArgfsTer8
ENST00000643737.1:c.*2813_*2814del	ENSP00000494210.1:n.*2813_*2814del
ENST00000644595.1:c.2732_2733del	ENSP00000494121.1:p.Lys911ArgfsTer8
ENST00000644629.1:c.2319_2320del
ENST00000644841.1:c.*1216_*1217del	ENSP00000493988.1:n.*1216_*1217del
ENST00000644959.1:c.2726_2727del
ENST00000645553.1:c.2747_2748del	ENSP00000494725.1:p.Lys916ArgfsTer8
ENST00000646085.1:c.*2210_*2211del	ENSP00000494509.1:n.*2210_*2211del
ENST00000646277.1:c.*1333_*1334del	ENSP00000495289.1:n.*1333_*1334del
ENST00000646544.1:c.1720_1721del
ENST00000646699.1:c.2671_2672del
ENST00000646793.1:c.2624_2625del	ENSP00000494512.1:p.Lys875ArgfsTer8
ENST00000361150.6:c.2735_2736del	ENSP00000354781.2:p.Lys912ArgfsTer8
ENST00000361510.6:c.2897_2898del	ENSP00000355324.2:p.Lys966ArgfsTer8
ENST00000361715.6:c.2789_2790del	ENSP00000355311.2:p.Lys930ArgfsTer8
ENST00000361828.6:c.2786_2787del	ENSP00000354429.2:p.Lys929ArgfsTer8
ENST00000361908.7:c.2843_2844del	ENSP00000354681.3:p.Lys948ArgfsTer8
ENST00000392438.7:c.2732_2733del	ENSP00000376233.3:p.Lys911ArgfsTer8
ENST00000429164.1:c.19_20del
ENST00000445863.1:c.308_309del	ENSP00000398358.1:p.Lys103ArgfsTer8
NM_015560.2:c.2732_2733del , LRG_337t1:c.2732_2733del	NP_056375.2:p.Lys911ArgfsTer8
NM_130831.2:c.2624_2625del	NP_570844.1:p.Lys875ArgfsTer8
NM_130832.2:c.2678_2679del	NP_570845.1:p.Lys893ArgfsTer8
NM_130833.2:c.2735_2736del	NP_570846.1:p.Lys912ArgfsTer8
NM_130834.2:c.2786_2787del	NP_570847.2:p.Lys929ArgfsTer8
NM_130835.2:c.2789_2790del	NP_570848.1:p.Lys930ArgfsTer8
NM_130836.2:c.2843_2844del	NP_570849.2:p.Lys948ArgfsTer8
NM_130837.2:c.2897_2898del , LRG_337t2:c.2897_2898del	NP_570850.2:p.Lys966ArgfsTer8
XM_011512863.1:c.2897_2898del	XP_011511165.1:p.Lys966ArgfsTer8
XM_011512864.1:c.2843_2844del	XP_011511166.1:p.Lys948ArgfsTer8
XM_011512865.1:c.2786_2787del	XP_011511167.1:p.Lys929ArgfsTer8
XM_011512866.1:c.2735_2736del	XP_011511168.1:p.Lys912ArgfsTer8
XM_011512867.1:c.2732_2733del	XP_011511169.1:p.Lys911ArgfsTer8
XM_011512868.1:c.2624_2625del	XP_011511170.1:p.Lys875ArgfsTer8
XR_924835.1:n.582+1726_582+1727del
NM_001354663.1:c.2363_2364del	NP_001341592.1:p.Lys788ArgfsTer8
NM_001354664.1:c.2360_2361del	NP_001341593.1:p.Lys787ArgfsTer8
XR_001740158.2:n.3151_3152del
XR_001740159.2:n.2986_2987del
XR_001741072.1:n.600+1726_600+1727del
XR_001741074.1:n.475+3614_475+3615del
XR_924835.2:n.600+1726_600+1727del
NM_001354663.2:c.2363_2364del	NP_001341592.1:p.Lys788ArgfsTer8
NM_001354664.2:c.2360_2361del	NP_001341593.1:p.Lys787ArgfsTer8
NM_130831.3:c.2624_2625del	NP_570844.1:p.Lys875ArgfsTer8
NM_130832.3:c.2678_2679del	NP_570845.1:p.Lys893ArgfsTer8
NM_130834.3:c.2786_2787del	NP_570847.2:p.Lys929ArgfsTer8
NM_130836.3:c.2843_2844del	NP_570849.2:p.Lys948ArgfsTer8
NM_015560.3:c.2732_2733del	NP_056375.2:p.Lys911ArgfsTer8
NM_130833.3:c.2735_2736del	NP_570846.1:p.Lys912ArgfsTer8
NM_130835.3:c.2789_2790del	NP_570848.1:p.Lys930ArgfsTer8
NM_130837.3:c.2897_2898del MANE Select	NP_570850.2:p.Lys966ArgfsTer8