Canonical Allele Identifier: CA1225123273
Gene: COQ8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226982438_226982459delinsAAAAACTCTGCATGTTGAGTGT , CM000663.2:g.226982438_226982459delinsAAAAACTCTGCATGTTGAGTGT GRCh38
NC_000001.10:g.227170139_227170160delinsAAAAACTCTGCATGTTGAGTGT , CM000663.1:g.227170139_227170160delinsAAAAACTCTGCATGTTGAGTGT GRCh37
NC_000001.9:g.225236762_225236783delinsAAAAACTCTGCATGTTGAGTGT NCBI36
NG_012825.1:g.47202_47223delinsAAAAACTCTGCATGTTGAGTGT
NG_012825.2:g.89903_89924delinsAAAAACTCTGCATGTTGAGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT MANE Select ENSP00000355739.3:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGT...
ENST00000366779.6:c.*5581-240_*5581-219delinsAAAAACTCTGCATGTTGAGTGT ENSP00000355741.2:n.*5581-240_*5581-219delinsAAAAACTCTGCATGTT...
ENST00000676884.1:c.*5703-240_*5703-219delinsAAAAACTCTGCATGTTGAGTGT ENSP00000503200.1:n.*5703-240_*5703-219delinsAAAAACTCTGCATGTT...
ENST00000366777.3:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT ENSP00000355739.3:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGT...
ENST00000366778.5:c.698-240_698-219delinsAAAAACTCTGCATGTTGAGTGT ENSP00000355740.1:n.698-240_698-219delinsAAAAACTCTGCATGTTGAGT...
ENST00000366779.5:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT ENSP00000355741.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGT...
ENST00000478406.5:n.593_614delinsAAAAACTCTGCATGTTGAGTGT
ENST00000485462.5:n.244-240_244-219delinsAAAAACTCTGCATGTTGAGTGT
NM_020247.4:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT NP_064632.2:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_005273201.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_005273258.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544238.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542540.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544239.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542541.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544240.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542542.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544241.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542543.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544239.2:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542541.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_011544241.2:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_011542543.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_017001852.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_016857341.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_024448517.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_024304285.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
XM_024448518.1:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT XP_024304286.1:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT
NM_020247.5:c.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT MANE Select NP_064632.2:n.854-240_854-219delinsAAAAACTCTGCATGTTGAGTGT