Canonical Allele Identifier: CA10642994
Gene: OPA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45549379_45549383del , CM000681.2:g.45549379_45549383del GRCh38
NC_000019.9:g.46052637_46052641del , CM000681.1:g.46052637_46052641del GRCh37
NC_000019.8:g.50744477_50744481del NCBI36
NG_013332.1:g.40498_40502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-19911_143-19907del ENSP00000319817.3:n.143-19911_143-19907del
ENST00000263275.5:c.*4147_*4151del MANE Select ENSP00000263275.4:n.*4147_*4151del
ENST00000263275.4:c.*4147_*4151del ENSP00000263275.3:n.*4147_*4151del
ENST00000323060.3:c.143-19911_143-19907del ENSP00000319817.3:n.143-19911_143-19907del
NM_001017989.2:c.143-19911_143-19907del NP_001017989.2:n.143-19911_143-19907del
NM_025136.3:c.*4147_*4151del NP_079412.1:n.*4147_*4151del
XM_011527348.1:c.-17-19911_-17-19907del XP_011525650.1:n.-17-19911_-17-19907del
XM_006723403.4:c.*4147_*4151del XP_006723466.1:n.*4147_*4151del
NM_001017989.3:c.143-19911_143-19907del NP_001017989.2:n.143-19911_143-19907del
NM_025136.4:c.*4147_*4151del MANE Select NP_079412.1:n.*4147_*4151del