Canonical Allele Identifier: CA1225123811

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983553_226983554delinsAC , CM000663.2:g.226983553_226983554delinsAC	GRCh38
NC_000001.10:g.227171254_227171255delinsAC , CM000663.1:g.227171254_227171255delinsAC	GRCh37
NC_000001.9:g.225237877_225237878delinsAC	NCBI36
NG_012825.1:g.48317_48318delinsAC
NG_012825.2:g.91018_91019delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1082_1083delinsAC MANE Select	ENSP00000355739.3:p.Tyr361=
ENST00000366779.6:c.*5809_*5810delinsAC	ENSP00000355741.2:n.*5809_*5810delinsAC
ENST00000676884.1:c.*5931_*5932delinsAC	ENSP00000503200.1:n.*5931_*5932delinsAC
ENST00000366777.3:c.1082_1083delinsAC	ENSP00000355739.3:p.Tyr361=
ENST00000366778.5:c.926_927delinsAC	ENSP00000355740.1:p.Tyr309=
ENST00000366779.5:c.1082_1083delinsAC	ENSP00000355741.1:p.Tyr361=
ENST00000478406.5:n.1578_1579delinsAC
ENST00000479852.1:n.30_31delinsAC
ENST00000485462.5:n.472_473delinsAC
NM_020247.4:c.1082_1083delinsAC	NP_064632.2:p.Tyr361=
XM_005273201.1:c.1082_1083delinsAC	XP_005273258.1:p.Tyr361=
XM_011544238.1:c.1082_1083delinsAC	XP_011542540.1:p.Tyr361=
XM_011544239.1:c.1082_1083delinsAC	XP_011542541.1:p.Tyr361=
XM_011544240.1:c.1082_1083delinsAC	XP_011542542.1:p.Tyr361=
XM_011544241.1:c.1082_1083delinsAC	XP_011542543.1:p.Tyr361=
XM_011544239.2:c.1082_1083delinsAC	XP_011542541.1:p.Tyr361=
XM_011544241.2:c.1082_1083delinsAC	XP_011542543.1:p.Tyr361=
XM_017001852.1:c.1082_1083delinsAC	XP_016857341.1:p.Tyr361=
XM_024448517.1:c.1082_1083delinsAC	XP_024304285.1:p.Tyr361=
XM_024448518.1:c.1082_1083delinsAC	XP_024304286.1:p.Tyr361=
NM_020247.5:c.1082_1083delinsAC MANE Select	NP_064632.2:p.Tyr361=