Canonical Allele Identifier: CA340208
Gene: OPA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45553717_45553734del , CM000681.2:g.45553717_45553734del GRCh38
NC_000019.9:g.46056975_46056992del , CM000681.1:g.46056975_46056992del GRCh37
NC_000019.8:g.50748815_50748832del NCBI36
NG_013332.1:g.36133_36150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-24276_143-24259del ENSP00000319817.3:n.143-24276_143-24259del
ENST00000263275.5:c.322_339del MANE Select ENSP00000263275.4:p.Gln108_Glu113del
ENST00000263275.4:c.322_339del ENSP00000263275.3:p.Gln108_Glu113del
ENST00000323060.3:c.143-24276_143-24259del ENSP00000319817.3:n.143-24276_143-24259del
ENST00000544371.1:c.163_180del ENSP00000442839.1:p.Gln55_Glu60del
NM_001017989.2:c.143-24276_143-24259del NP_001017989.2:n.143-24276_143-24259del
NM_025136.3:c.322_339del NP_079412.1:p.Gln108_Glu113del
XM_005259278.2:c.163_180del XP_005259335.1:p.Gln55_Glu60del
XM_006723403.2:c.163_180del XP_006723466.1:p.Gln55_Glu60del
XM_011527348.1:c.-17-24276_-17-24259del XP_011525650.1:n.-17-24276_-17-24259del
XM_006723403.4:c.163_180del XP_006723466.1:p.Gln55_Glu60del
NM_001017989.3:c.143-24276_143-24259del NP_001017989.2:n.143-24276_143-24259del
NM_025136.4:c.322_339del MANE Select NP_079412.1:p.Gln108_Glu113del
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