Canonical Allele Identifier: CA1225123089

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982027_226982030delinsGGAA , CM000663.2:g.226982027_226982030delinsGGAA	GRCh38
NC_000001.10:g.227169728_227169731delinsGGAA , CM000663.1:g.227169728_227169731delinsGGAA	GRCh37
NC_000001.9:g.225236351_225236354delinsGGAA	NCBI36
NG_012825.1:g.46791_46794delinsGGAA
NG_012825.2:g.89492_89495delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.731_734delinsGGAA MANE Select	ENSP00000355739.3:p.Gly244=
ENST00000366779.6:c.*5458_*5461delinsGGAA	ENSP00000355741.2:n.*5458_*5461delinsGGAA
ENST00000676884.1:c.*5580_*5583delinsGGAA	ENSP00000503200.1:n.*5580_*5583delinsGGAA
ENST00000366777.3:c.731_734delinsGGAA	ENSP00000355739.3:p.Gly244=
ENST00000366778.5:c.575_578delinsGGAA	ENSP00000355740.1:p.Gly192=
ENST00000366779.5:c.731_734delinsGGAA	ENSP00000355741.1:p.Gly244=
ENST00000478406.5:n.182_185delinsGGAA
ENST00000485462.5:n.121_124delinsGGAA
NM_020247.4:c.731_734delinsGGAA	NP_064632.2:p.Gly244=
XM_005273201.1:c.731_734delinsGGAA	XP_005273258.1:p.Gly244=
XM_011544238.1:c.731_734delinsGGAA	XP_011542540.1:p.Gly244=
XM_011544239.1:c.731_734delinsGGAA	XP_011542541.1:p.Gly244=
XM_011544240.1:c.731_734delinsGGAA	XP_011542542.1:p.Gly244=
XM_011544241.1:c.731_734delinsGGAA	XP_011542543.1:p.Gly244=
XM_011544239.2:c.731_734delinsGGAA	XP_011542541.1:p.Gly244=
XM_011544241.2:c.731_734delinsGGAA	XP_011542543.1:p.Gly244=
XM_017001852.1:c.731_734delinsGGAA	XP_016857341.1:p.Gly244=
XM_024448517.1:c.731_734delinsGGAA	XP_024304285.1:p.Gly244=
XM_024448518.1:c.731_734delinsGGAA	XP_024304286.1:p.Gly244=
NM_020247.5:c.731_734delinsGGAA MANE Select	NP_064632.2:p.Gly244=