Canonical Allele Identifier: CA915942987

Gene: OPA1

Linked Data

• ClinVar Variation Id: 805096
• ClinVar RCV Id: RCV000992457
• dbSNP Id: rs1577242473

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643444_193643448del , CM000665.2:g.193643444_193643448del	GRCh38
NC_000003.11:g.193361233_193361237del , CM000665.1:g.193361233_193361237del	GRCh37
NC_000003.10:g.194843927_194843931del	NCBI36
NG_011605.1:g.55301_55305del , LRG_337:g.55301_55305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1377_1377+4del
ENST00000361828.7:c.1212_1212+4del
ENST00000361908.8:c.1323_1323+4del
ENST00000392436.7:c.1212_1212+4del
ENST00000392437.6:c.1266_1266+4del
ENST00000642289.1:c.1151_1151+4del
ENST00000642445.1:c.1212_1212+4del
ENST00000642593.1:c.1212_1212+4del
ENST00000643329.1:c.894_894+4del
ENST00000643737.1:c.*1293_*1293+4del
ENST00000644595.1:c.1212_1212+4del
ENST00000644629.1:c.872_872+4del
ENST00000644841.1:c.840_840+4del
ENST00000644959.1:c.1181_1181+4del
ENST00000645553.1:c.1227_1227+4del
ENST00000646085.1:c.*690_*690+4del
ENST00000646277.1:c.1377_1377+4del
ENST00000646544.1:c.200_200+4del
ENST00000646699.1:c.1151_1151+4del
ENST00000646793.1:c.1104_1104+4del
ENST00000361150.6:c.1215_1215+4del
ENST00000361510.6:c.1377_1377+4del
ENST00000361715.6:c.1269_1269+4del
ENST00000361828.6:c.1266_1266+4del
ENST00000361908.7:c.1323_1323+4del
ENST00000392438.7:c.1212_1212+4del
ENST00000475899.1:n.408_408+4del
NM_015560.2:c.1212_1212+4del , LRG_337t1:c.1212_1212+4del
NM_130831.2:c.1104_1104+4del
NM_130832.2:c.1158_1158+4del
NM_130833.2:c.1215_1215+4del
NM_130834.2:c.1266_1266+4del
NM_130835.2:c.1269_1269+4del
NM_130836.2:c.1323_1323+4del
NM_130837.2:c.1377_1377+4del , LRG_337t2:c.1377_1377+4del
XM_011512863.1:c.1377_1377+4del
XM_011512864.1:c.1323_1323+4del
XM_011512865.1:c.1266_1266+4del
XM_011512866.1:c.1215_1215+4del
XM_011512867.1:c.1212_1212+4del
XM_011512868.1:c.1104_1104+4del
XM_011512869.1:c.1377_1377+4del
NM_001354663.1:c.843_843+4del
NM_001354664.1:c.840_840+4del
XR_001740158.2:n.1606_1606+4del
XR_001740159.2:n.1441_1441+4del
NM_001354663.2:c.843_843+4del
NM_001354664.2:c.840_840+4del
NM_130831.3:c.1104_1104+4del
NM_130832.3:c.1158_1158+4del
NM_130834.3:c.1266_1266+4del
NM_130836.3:c.1323_1323+4del
NM_015560.3:c.1212_1212+4del
NM_130833.3:c.1215_1215+4del
NM_130835.3:c.1269_1269+4del
NM_130837.3:c.1377_1377+4del