Canonical Allele Identifier: CA2747999767

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982858_226982860del , CM000663.2:g.226982858_226982860del	GRCh38
NC_000001.10:g.227170559_227170561del , CM000663.1:g.227170559_227170561del	GRCh37
NC_000001.9:g.225237182_225237184del	NCBI36
NG_012825.1:g.47622_47624del
NG_012825.2:g.90323_90325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.940-36_940-34del MANE Select	ENSP00000355739.3:n.940-36_940-34del
ENST00000366779.6:c.*5667-36_*5667-34del	ENSP00000355741.2:n.*5667-36_*5667-34del
ENST00000676884.1:c.*5789-36_*5789-34del	ENSP00000503200.1:n.*5789-36_*5789-34del
ENST00000366777.3:c.940-36_940-34del	ENSP00000355739.3:n.940-36_940-34del
ENST00000366778.5:c.784-36_784-34del	ENSP00000355740.1:n.784-36_784-34del
ENST00000366779.5:c.940-36_940-34del	ENSP00000355741.1:n.940-36_940-34del
ENST00000478406.5:n.919-36_919-34del
ENST00000485462.5:n.330-36_330-34del
NM_020247.4:c.940-36_940-34del	NP_064632.2:n.940-36_940-34del
XM_005273201.1:c.940-36_940-34del	XP_005273258.1:n.940-36_940-34del
XM_011544238.1:c.940-36_940-34del	XP_011542540.1:n.940-36_940-34del
XM_011544239.1:c.940-36_940-34del	XP_011542541.1:n.940-36_940-34del
XM_011544240.1:c.940-36_940-34del	XP_011542542.1:n.940-36_940-34del
XM_011544241.1:c.940-36_940-34del	XP_011542543.1:n.940-36_940-34del
XM_011544239.2:c.940-36_940-34del	XP_011542541.1:n.940-36_940-34del
XM_011544241.2:c.940-36_940-34del	XP_011542543.1:n.940-36_940-34del
XM_017001852.1:c.940-36_940-34del	XP_016857341.1:n.940-36_940-34del
XM_024448517.1:c.940-36_940-34del	XP_024304285.1:n.940-36_940-34del
XM_024448518.1:c.940-36_940-34del	XP_024304286.1:n.940-36_940-34del
NM_020247.5:c.940-36_940-34del MANE Select	NP_064632.2:n.940-36_940-34del