Canonical Allele Identifier: CA1225124113
Gene: COQ8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984129_226984141delinsCTGAGATTGTGGA , CM000663.2:g.226984129_226984141delinsCTGAGATTGTGGA GRCh38
NC_000001.10:g.227171830_227171842delinsCTGAGATTGTGGA , CM000663.1:g.227171830_227171842delinsCTGAGATTGTGGA GRCh37
NC_000001.9:g.225238453_225238465delinsCTGAGATTGTGGA NCBI36
NG_012825.1:g.48893_48905delinsCTGAGATTGTGGA
NG_012825.2:g.91594_91606delinsCTGAGATTGTGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.4:c.1292_1304delinsCTGAGATTGTGGA MANE Select ENSP00000355739.3:p.Pro431=
ENST00000366779.6:c.*6019_*6031delinsCTGAGATTGTGGA ENSP00000355741.2:n.*6019_*6031delinsCTGA...
ENST00000366777.3:c.1292_1304delinsCTGAGATTGTGGA ENSP00000355739.3:p.Pro431=
ENST00000366778.5:c.1136_1148delinsCTGAGATTGTGGA ENSP00000355740.1:p.Pro379=
ENST00000366779.5:c.1292_1304delinsCTGAGATTGTGGA ENSP00000355741.1:p.Pro431=
ENST00000478406.5:n.2154_2166delinsCTGAGATTGTGGA
ENST00000479852.1:n.479_491delinsCTGAGATTGTGGA
ENST00000485462.5:n.682_694delinsCTGAGATTGTGGA
NM_020247.4:c.1292_1304delinsCTGAGATTGTGGA NP_064632.2:p.Pro431=
XM_005273201.1:c.1292_1304delinsCTGAGATTGTGGA XP_005273258.1:p.Pro431=
XM_011544238.1:c.1292_1304delinsCTGAGATTGTGGA XP_011542540.1:p.Pro431=
XM_011544239.1:c.1292_1304delinsCTGAGATTGTGGA XP_011542541.1:p.Pro431=
XM_011544240.1:c.1292_1304delinsCTGAGATTGTGGA XP_011542542.1:p.Pro431=
XM_011544241.1:c.1292_1304delinsCTGAGATTGTGGA XP_011542543.1:p.Pro431=
XM_011544239.2:c.1292_1304delinsCTGAGATTGTGGA XP_011542541.1:p.Pro431=
XM_011544241.2:c.1292_1304delinsCTGAGATTGTGGA XP_011542543.1:p.Pro431=
XM_017001852.1:c.1292_1304delinsCTGAGATTGTGGA XP_016857341.1:p.Pro431=
XM_024448517.1:c.1292_1304delinsCTGAGATTGTGGA XP_024304285.1:p.Pro431=
XM_024448518.1:c.1292_1304delinsCTGAGATTGTGGA XP_024304286.1:p.Pro431=
NM_020247.5:c.1292_1304delinsCTGAGATTGTGGA MANE Select NP_064632.2:p.Pro431=