Canonical Allele Identifier: CA1225123478

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982897_226982899delinsACT , CM000663.2:g.226982897_226982899delinsACT	GRCh38
NC_000001.10:g.227170598_227170600delinsACT , CM000663.1:g.227170598_227170600delinsACT	GRCh37
NC_000001.9:g.225237221_225237223delinsACT	NCBI36
NG_012825.1:g.47661_47663delinsACT
NG_012825.2:g.90362_90364delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.943_945delinsACT MANE Select	ENSP00000355739.3:p.Thr315=
ENST00000366779.6:c.*5670_*5672delinsACT	ENSP00000355741.2:n.*5670_*5672delinsACT
ENST00000676884.1:c.*5792_*5794delinsACT	ENSP00000503200.1:n.*5792_*5794delinsACT
ENST00000366777.3:c.943_945delinsACT	ENSP00000355739.3:p.Thr315=
ENST00000366778.5:c.787_789delinsACT	ENSP00000355740.1:p.Thr263=
ENST00000366779.5:c.943_945delinsACT	ENSP00000355741.1:p.Thr315=
ENST00000478406.5:n.922_924delinsACT
ENST00000485462.5:n.333_335delinsACT
NM_020247.4:c.943_945delinsACT	NP_064632.2:p.Thr315=
XM_005273201.1:c.943_945delinsACT	XP_005273258.1:p.Thr315=
XM_011544238.1:c.943_945delinsACT	XP_011542540.1:p.Thr315=
XM_011544239.1:c.943_945delinsACT	XP_011542541.1:p.Thr315=
XM_011544240.1:c.943_945delinsACT	XP_011542542.1:p.Thr315=
XM_011544241.1:c.943_945delinsACT	XP_011542543.1:p.Thr315=
XM_011544239.2:c.943_945delinsACT	XP_011542541.1:p.Thr315=
XM_011544241.2:c.943_945delinsACT	XP_011542543.1:p.Thr315=
XM_017001852.1:c.943_945delinsACT	XP_016857341.1:p.Thr315=
XM_024448517.1:c.943_945delinsACT	XP_024304285.1:p.Thr315=
XM_024448518.1:c.943_945delinsACT	XP_024304286.1:p.Thr315=
NM_020247.5:c.943_945delinsACT MANE Select	NP_064632.2:p.Thr315=