Canonical Allele Identifier: CA2580070555

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2003096
• ClinVar RCV Id: RCV002825088 ; RCV003138363

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667182_193667288del , CM000665.2:g.193667182_193667288del	GRCh38
NC_000003.11:g.193384971_193385077del , CM000665.1:g.193384971_193385077del	GRCh37
NC_000003.10:g.194867665_194867771del	NCBI36
NG_011605.1:g.79039_79145del , LRG_337:g.79039_79145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2885_2983+8del
ENST00000361828.7:c.2720_2818+8del
ENST00000361908.8:c.2831_2929+8del
ENST00000392436.7:c.2720_2818+8del
ENST00000392437.6:c.2774_2872+8del
ENST00000642289.1:c.2659_2757+8del
ENST00000642445.1:c.2720_2818+8del
ENST00000642593.1:c.*945_*1043+8del
ENST00000643329.1:c.2402_2500+8del
ENST00000643737.1:c.*2801_*2899+8del
ENST00000644595.1:c.2720_2818+8del
ENST00000644629.1:c.2307_2405+8del
ENST00000644841.1:c.*1204_*1302+8del
ENST00000644959.1:c.2714_2812+8del
ENST00000645553.1:c.2735_2833+8del
ENST00000646085.1:c.*2198_*2296+8del
ENST00000646277.1:c.*1321_*1419+8del
ENST00000646544.1:c.1708_1806+8del
ENST00000646699.1:c.2659_2757+8del
ENST00000646793.1:c.2612_2710+8del
ENST00000361150.6:c.2723_2821+8del
ENST00000361510.6:c.2885_2983+8del
ENST00000361715.6:c.2777_2875+8del
ENST00000361828.6:c.2774_2872+8del
ENST00000361908.7:c.2831_2929+8del
ENST00000392438.7:c.2720_2818+8del
ENST00000429164.1:c.7_105+8del
ENST00000445863.1:c.296_394+8del
NM_015560.2:c.2720_2818+8del , LRG_337t1:c.2720_2818+8del
NM_130831.2:c.2612_2710+8del
NM_130832.2:c.2666_2764+8del
NM_130833.2:c.2723_2821+8del
NM_130834.2:c.2774_2872+8del
NM_130835.2:c.2777_2875+8del
NM_130836.2:c.2831_2929+8del
NM_130837.2:c.2885_2983+8del , LRG_337t2:c.2885_2983+8del
XM_011512863.1:c.2885_2983+8del
XM_011512864.1:c.2831_2929+8del
XM_011512865.1:c.2774_2872+8del
XM_011512866.1:c.2723_2821+8del
XM_011512867.1:c.2720_2818+8del
XM_011512868.1:c.2612_2710+8del
XR_924835.1:n.582+1635_582+1741del
NM_001354663.1:c.2351_2449+8del
NM_001354664.1:c.2348_2446+8del
XR_001740158.2:n.3139_3237+8del
XR_001740159.2:n.2974_3072+8del
XR_001741072.1:n.600+1635_600+1741del
XR_001741074.1:n.475+3523_475+3629del
XR_924835.2:n.600+1635_600+1741del
NM_001354663.2:c.2351_2449+8del
NM_001354664.2:c.2348_2446+8del
NM_130831.3:c.2612_2710+8del
NM_130832.3:c.2666_2764+8del
NM_130834.3:c.2774_2872+8del
NM_130836.3:c.2831_2929+8del
NM_015560.3:c.2720_2818+8del
NM_130833.3:c.2723_2821+8del
NM_130835.3:c.2777_2875+8del
NM_130837.3:c.2885_2983+8del