Canonical Allele Identifier: CA2759801

Gene: OPA1

Linked Data

• dbSNP Id: rs748651632
• ExAC: 3:193385124 ATTTG / A
• gnomAD v2: 3-193385124-ATTTG-A
• gnomAD v4: 3-193667335-ATTTG-A
• MyVariant Identifiers: chr3:g.193385125_193385128del (hg19) ; chr3:g.193667336_193667339del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667342_193667345del , CM000665.2:g.193667342_193667345del	GRCh38
NC_000003.11:g.193385131_193385134del , CM000665.1:g.193385131_193385134del	GRCh37
NC_000003.10:g.194867825_194867828del	NCBI36
NG_011605.1:g.79199_79202del , LRG_337:g.79199_79202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2983+62_2983+65del MANE Select	ENSP00000355324.2:n.2983+62_2983+65del
ENST00000361828.7:c.2818+62_2818+65del	ENSP00000354429.3:n.2818+62_2818+65del
ENST00000361908.8:c.2929+62_2929+65del	ENSP00000354681.3:n.2929+62_2929+65del
ENST00000392436.7:c.2818+62_2818+65del	ENSP00000376231.3:n.2818+62_2818+65del
ENST00000392437.6:c.2872+62_2872+65del	ENSP00000376232.2:n.2872+62_2872+65del
ENST00000642289.1:c.2757+62_2757+65del
ENST00000642445.1:c.2818+62_2818+65del	ENSP00000495535.1:n.2818+62_2818+65del
ENST00000642593.1:c.*1043+62_*1043+65del	ENSP00000494273.1:n.*1043+62_*1043+65del
ENST00000643329.1:c.2500+62_2500+65del	ENSP00000493673.1:n.2500+62_2500+65del
ENST00000643737.1:c.*2899+62_*2899+65del	ENSP00000494210.1:n.*2899+62_*2899+65del
ENST00000644595.1:c.2818+62_2818+65del	ENSP00000494121.1:n.2818+62_2818+65del
ENST00000644629.1:c.2405+62_2405+65del
ENST00000644841.1:c.*1302+62_*1302+65del	ENSP00000493988.1:n.*1302+62_*1302+65del
ENST00000644959.1:c.2812+62_2812+65del
ENST00000645553.1:c.2833+62_2833+65del	ENSP00000494725.1:n.2833+62_2833+65del
ENST00000646085.1:c.*2296+62_*2296+65del	ENSP00000494509.1:n.*2296+62_*2296+65del
ENST00000646277.1:c.*1419+62_*1419+65del	ENSP00000495289.1:n.*1419+62_*1419+65del
ENST00000646544.1:c.1806+62_1806+65del
ENST00000646699.1:c.2757+62_2757+65del
ENST00000646793.1:c.2710+62_2710+65del	ENSP00000494512.1:n.2710+62_2710+65del
ENST00000361150.6:c.2821+62_2821+65del	ENSP00000354781.2:n.2821+62_2821+65del
ENST00000361510.6:c.2983+62_2983+65del	ENSP00000355324.2:n.2983+62_2983+65del
ENST00000361715.6:c.2875+62_2875+65del	ENSP00000355311.2:n.2875+62_2875+65del
ENST00000361828.6:c.2872+62_2872+65del	ENSP00000354429.2:n.2872+62_2872+65del
ENST00000361908.7:c.2929+62_2929+65del	ENSP00000354681.3:n.2929+62_2929+65del
ENST00000392438.7:c.2818+62_2818+65del	ENSP00000376233.3:n.2818+62_2818+65del
ENST00000429164.1:c.105+62_105+65del
ENST00000445863.1:c.395-29_395-26del	ENSP00000398358.1:n.395-29_395-26del
NM_015560.2:c.2818+62_2818+65del , LRG_337t1:c.2818+62_2818+65del	NP_056375.2:n.2818+62_2818+65del
NM_130831.2:c.2710+62_2710+65del	NP_570844.1:n.2710+62_2710+65del
NM_130832.2:c.2764+62_2764+65del	NP_570845.1:n.2764+62_2764+65del
NM_130833.2:c.2821+62_2821+65del	NP_570846.1:n.2821+62_2821+65del
NM_130834.2:c.2872+62_2872+65del	NP_570847.2:n.2872+62_2872+65del
NM_130835.2:c.2875+62_2875+65del	NP_570848.1:n.2875+62_2875+65del
NM_130836.2:c.2929+62_2929+65del	NP_570849.2:n.2929+62_2929+65del
NM_130837.2:c.2983+62_2983+65del , LRG_337t2:c.2983+62_2983+65del	NP_570850.2:n.2983+62_2983+65del
XM_011512863.1:c.2983+62_2983+65del	XP_011511165.1:n.2983+62_2983+65del
XM_011512864.1:c.2929+62_2929+65del	XP_011511166.1:n.2929+62_2929+65del
XM_011512865.1:c.2872+62_2872+65del	XP_011511167.1:n.2872+62_2872+65del
XM_011512866.1:c.2821+62_2821+65del	XP_011511168.1:n.2821+62_2821+65del
XM_011512867.1:c.2818+62_2818+65del	XP_011511169.1:n.2818+62_2818+65del
XM_011512868.1:c.2710+62_2710+65del	XP_011511170.1:n.2710+62_2710+65del
XR_924835.1:n.582+1581_582+1584del
NM_001354663.1:c.2449+62_2449+65del	NP_001341592.1:n.2449+62_2449+65del
NM_001354664.1:c.2446+62_2446+65del	NP_001341593.1:n.2446+62_2446+65del
XR_001740158.2:n.3237+62_3237+65del
XR_001740159.2:n.3072+62_3072+65del
XR_001741072.1:n.600+1581_600+1584del
XR_001741074.1:n.475+3469_475+3472del
XR_924835.2:n.600+1581_600+1584del
NM_001354663.2:c.2449+62_2449+65del	NP_001341592.1:n.2449+62_2449+65del
NM_001354664.2:c.2446+62_2446+65del	NP_001341593.1:n.2446+62_2446+65del
NM_130831.3:c.2710+62_2710+65del	NP_570844.1:n.2710+62_2710+65del
NM_130832.3:c.2764+62_2764+65del	NP_570845.1:n.2764+62_2764+65del
NM_130834.3:c.2872+62_2872+65del	NP_570847.2:n.2872+62_2872+65del
NM_130836.3:c.2929+62_2929+65del	NP_570849.2:n.2929+62_2929+65del
NM_015560.3:c.2818+62_2818+65del	NP_056375.2:n.2818+62_2818+65del
NM_130833.3:c.2821+62_2821+65del	NP_570846.1:n.2821+62_2821+65del
NM_130835.3:c.2875+62_2875+65del	NP_570848.1:n.2875+62_2875+65del
NM_130837.3:c.2983+62_2983+65del MANE Select	NP_570850.2:n.2983+62_2983+65del