Canonical Allele Identifier: CA2669101851
Gene: OPA1 HGNC NCBI
OPA1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 3-193618679-G-GTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.193618687_193618689dup , CM000665.2:g.193618687_193618689dup GRCh38
NC_000003.11:g.193336476_193336478dup , CM000665.1:g.193336476_193336478dup GRCh37
NC_000003.10:g.194819170_194819172dup NCBI36
NG_011605.1:g.30544_30546dup , LRG_337:g.30544_30546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361510.8:c.611-182_611-180dup (OPA1) MANE Select ENSP00000355324.2:n.611-182_611-180dup
ENST00000361828.7:c.557-182_557-180dup (OPA1) ENSP00000354429.3:n.557-182_557-180dup
ENST00000361908.8:c.557-182_557-180dup (OPA1) ENSP00000354681.3:n.557-182_557-180dup
ENST00000392436.7:c.557-182_557-180dup (OPA1) ENSP00000376231.3:n.557-182_557-180dup
ENST00000392437.6:c.611-182_611-180dup (OPA1) ENSP00000376232.2:n.611-182_611-180dup
ENST00000434811.2:c.231-16_231-14dup (OPA1)
ENST00000642289.1:c.486-16_486-14dup (OPA1)
ENST00000642445.1:c.557-182_557-180dup (OPA1) ENSP00000495535.1:n.557-182_557-180dup
ENST00000642593.1:c.557-182_557-180dup (OPA1) ENSP00000494273.1:n.557-182_557-180dup
ENST00000643329.1:c.239-182_239-180dup (OPA1) ENSP00000493673.1:n.239-182_239-180dup
ENST00000643737.1:c.*638-182_*638-180dup (OPA1) ENSP00000494210.1:n.*638-182_*638-180dup
ENST00000644595.1:c.557-182_557-180dup (OPA1) ENSP00000494121.1:n.557-182_557-180dup
ENST00000644629.1:c.217-182_217-180dup (OPA1)
ENST00000644841.1:c.185-182_185-180dup (OPA1) ENSP00000493988.1:n.185-182_185-180dup
ENST00000644959.1:c.526-182_526-180dup (OPA1)
ENST00000645553.1:c.557-182_557-180dup (OPA1) ENSP00000494725.1:n.557-182_557-180dup
ENST00000646085.1:c.557-182_557-180dup (OPA1) ENSP00000494509.1:n.557-182_557-180dup
ENST00000646277.1:c.611-182_611-180dup (OPA1) ENSP00000495289.1:n.611-182_611-180dup
ENST00000646699.1:c.486-16_486-14dup (OPA1)
ENST00000646793.1:c.449-182_449-180dup (OPA1) ENSP00000494512.1:n.449-182_449-180dup
ENST00000361150.6:c.449-182_449-180dup (OPA1) ENSP00000354781.2:n.449-182_449-180dup
ENST00000361510.6:c.611-182_611-180dup (OPA1) ENSP00000355324.2:n.611-182_611-180dup
ENST00000361715.6:c.503-182_503-180dup (OPA1) ENSP00000355311.2:n.503-182_503-180dup
ENST00000361828.6:c.611-182_611-180dup (OPA1) ENSP00000354429.2:n.611-182_611-180dup
ENST00000361908.7:c.557-182_557-180dup (OPA1) ENSP00000354681.3:n.557-182_557-180dup
ENST00000392436.6:c.611-182_611-180dup (OPA1) ENSP00000376231.2:n.611-182_611-180dup
ENST00000392437.5:c.449-182_449-180dup (OPA1) ENSP00000376232.1:n.449-182_449-180dup
ENST00000392438.7:c.557-182_557-180dup (OPA1) ENSP00000376233.3:n.557-182_557-180dup
ENST00000419435.5:c.185-182_185-180dup (OPA1) ENSP00000399877.1:n.185-182_185-180dup
ENST00000434811.1:c.310-182_310-180dup (OPA1)
ENST00000487986.1:n.460-182_460-180dup (OPA1)
NM_015560.2:c.557-182_557-180dup , LRG_337t1:c.557-182_557-180dup (OPA1) NP_056375.2:n.557-182_557-180dup
NM_130831.2:c.449-182_449-180dup (OPA1) NP_570844.1:n.449-182_449-180dup
NM_130832.2:c.503-182_503-180dup (OPA1) NP_570845.1:n.503-182_503-180dup
NM_130833.2:c.449-182_449-180dup (OPA1) NP_570846.1:n.449-182_449-180dup
NM_130834.2:c.611-182_611-180dup (OPA1) NP_570847.2:n.611-182_611-180dup
NM_130835.2:c.503-182_503-180dup (OPA1) NP_570848.1:n.503-182_503-180dup
NM_130836.2:c.557-182_557-180dup (OPA1) NP_570849.2:n.557-182_557-180dup
NM_130837.2:c.611-182_611-180dup , LRG_337t2:c.611-182_611-180dup (OPA1) NP_570850.2:n.611-182_611-180dup
NR_046634.1:n.419_421dup (OPA1-AS1)
XM_011512863.1:c.611-182_611-180dup (OPA1) XP_011511165.1:n.611-182_611-180dup
XM_011512864.1:c.557-182_557-180dup (OPA1) XP_011511166.1:n.557-182_557-180dup
XM_011512865.1:c.611-182_611-180dup (OPA1) XP_011511167.1:n.611-182_611-180dup
XM_011512866.1:c.449-182_449-180dup (OPA1) XP_011511168.1:n.449-182_449-180dup
XM_011512867.1:c.557-182_557-180dup (OPA1) XP_011511169.1:n.557-182_557-180dup
XM_011512868.1:c.449-182_449-180dup (OPA1) XP_011511170.1:n.449-182_449-180dup
XM_011512869.1:c.611-182_611-180dup (OPA1) XP_011511171.1:n.611-182_611-180dup
NM_001354663.1:c.77-182_77-180dup (OPA1) NP_001341592.1:n.77-182_77-180dup
NM_001354664.1:c.185-182_185-180dup (OPA1) NP_001341593.1:n.185-182_185-180dup
XR_001740158.2:n.840-182_840-180dup (OPA1)
XR_001740159.2:n.786-182_786-180dup (OPA1)
NM_001354663.2:c.77-182_77-180dup (OPA1) NP_001341592.1:n.77-182_77-180dup
NM_001354664.2:c.185-182_185-180dup (OPA1) NP_001341593.1:n.185-182_185-180dup
NM_130831.3:c.449-182_449-180dup (OPA1) NP_570844.1:n.449-182_449-180dup
NM_130832.3:c.503-182_503-180dup (OPA1) NP_570845.1:n.503-182_503-180dup
NM_130834.3:c.611-182_611-180dup (OPA1) NP_570847.2:n.611-182_611-180dup
NM_130836.3:c.557-182_557-180dup (OPA1) NP_570849.2:n.557-182_557-180dup
NM_015560.3:c.557-182_557-180dup (OPA1) NP_056375.2:n.557-182_557-180dup
NM_130833.3:c.449-182_449-180dup (OPA1) NP_570846.1:n.449-182_449-180dup
NM_130835.3:c.503-182_503-180dup (OPA1) NP_570848.1:n.503-182_503-180dup
NM_130837.3:c.611-182_611-180dup (OPA1) MANE Select NP_570850.2:n.611-182_611-180dup
Search 100 bp 5'
Search 100 bp 3'