Canonical Allele Identifier: CA2747999766

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982856_226982857insCT , CM000663.2:g.226982856_226982857insCT	GRCh38
NC_000001.10:g.227170557_227170558insCT , CM000663.1:g.227170557_227170558insCT	GRCh37
NC_000001.9:g.225237180_225237181insCT	NCBI36
NG_012825.1:g.47620_47621insCT
NG_012825.2:g.90321_90322insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.940-38_940-37insCT MANE Select	ENSP00000355739.3:n.940-38_940-37insCT
ENST00000366779.6:c.*5667-38_*5667-37insCT	ENSP00000355741.2:n.*5667-38_*5667-37insCT
ENST00000676884.1:c.*5789-38_*5789-37insCT	ENSP00000503200.1:n.*5789-38_*5789-37insCT
ENST00000366777.3:c.940-38_940-37insCT	ENSP00000355739.3:n.940-38_940-37insCT
ENST00000366778.5:c.784-38_784-37insCT	ENSP00000355740.1:n.784-38_784-37insCT
ENST00000366779.5:c.940-38_940-37insCT	ENSP00000355741.1:n.940-38_940-37insCT
ENST00000478406.5:n.919-38_919-37insCT
ENST00000485462.5:n.330-38_330-37insCT
NM_020247.4:c.940-38_940-37insCT	NP_064632.2:n.940-38_940-37insCT
XM_005273201.1:c.940-38_940-37insCT	XP_005273258.1:n.940-38_940-37insCT
XM_011544238.1:c.940-38_940-37insCT	XP_011542540.1:n.940-38_940-37insCT
XM_011544239.1:c.940-38_940-37insCT	XP_011542541.1:n.940-38_940-37insCT
XM_011544240.1:c.940-38_940-37insCT	XP_011542542.1:n.940-38_940-37insCT
XM_011544241.1:c.940-38_940-37insCT	XP_011542543.1:n.940-38_940-37insCT
XM_011544239.2:c.940-38_940-37insCT	XP_011542541.1:n.940-38_940-37insCT
XM_011544241.2:c.940-38_940-37insCT	XP_011542543.1:n.940-38_940-37insCT
XM_017001852.1:c.940-38_940-37insCT	XP_016857341.1:n.940-38_940-37insCT
XM_024448517.1:c.940-38_940-37insCT	XP_024304285.1:n.940-38_940-37insCT
XM_024448518.1:c.940-38_940-37insCT	XP_024304286.1:n.940-38_940-37insCT
NM_020247.5:c.940-38_940-37insCT MANE Select	NP_064632.2:n.940-38_940-37insCT