Canonical Allele Identifier: CA1225124449

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984734_226984735delinsCT , CM000663.2:g.226984734_226984735delinsCT	GRCh38
NC_000001.10:g.227172435_227172436delinsCT , CM000663.1:g.227172435_227172436delinsCT	GRCh37
NC_000001.9:g.225239058_225239059delinsCT	NCBI36
NG_012825.1:g.49498_49499delinsCT
NG_012825.2:g.92199_92200delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1506+79_1506+80delinsCT MANE Select	ENSP00000355739.3:n.1506+79_1506+80delinsCT
ENST00000366779.6:c.*6233+79_*6233+80delinsCT	ENSP00000355741.2:n.*6233+79_*6233+80delinsCT
ENST00000366777.3:c.1506+79_1506+80delinsCT	ENSP00000355739.3:n.1506+79_1506+80delinsCT
ENST00000366778.5:c.1350+79_1350+80delinsCT	ENSP00000355740.1:n.1350+79_1350+80delinsCT
ENST00000366779.5:c.1506+79_1506+80delinsCT	ENSP00000355741.1:n.1506+79_1506+80delinsCT
ENST00000478406.5:n.2368+79_2368+80delinsCT
ENST00000479852.1:n.693+79_693+80delinsCT
ENST00000485462.5:n.896+79_896+80delinsCT
NM_020247.4:c.1506+79_1506+80delinsCT	NP_064632.2:n.1506+79_1506+80delinsCT
XM_005273201.1:c.1506+79_1506+80delinsCT	XP_005273258.1:n.1506+79_1506+80delinsCT
XM_011544238.1:c.1506+79_1506+80delinsCT	XP_011542540.1:n.1506+79_1506+80delinsCT
XM_011544239.1:c.1506+79_1506+80delinsCT	XP_011542541.1:n.1506+79_1506+80delinsCT
XM_011544240.1:c.1506+79_1506+80delinsCT	XP_011542542.1:n.1506+79_1506+80delinsCT
XM_011544241.1:c.1506+79_1506+80delinsCT	XP_011542543.1:n.1506+79_1506+80delinsCT
XM_011544239.2:c.1506+79_1506+80delinsCT	XP_011542541.1:n.1506+79_1506+80delinsCT
XM_011544241.2:c.1506+79_1506+80delinsCT	XP_011542543.1:n.1506+79_1506+80delinsCT
XM_017001852.1:c.1506+79_1506+80delinsCT	XP_016857341.1:n.1506+79_1506+80delinsCT
XM_024448517.1:c.1506+79_1506+80delinsCT	XP_024304285.1:n.1506+79_1506+80delinsCT
XM_024448518.1:c.1506+79_1506+80delinsCT	XP_024304286.1:n.1506+79_1506+80delinsCT
NM_020247.5:c.1506+79_1506+80delinsCT MANE Select	NP_064632.2:n.1506+79_1506+80delinsCT