Canonical Allele Identifier: CA2697554952

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2697995
• ClinVar RCV Id: RCV003551546

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983830_226983831del , CM000663.2:g.226983830_226983831del	GRCh38
NC_000001.10:g.227171531_227171532del , CM000663.1:g.227171531_227171532del	GRCh37
NC_000001.9:g.225238154_225238155del	NCBI36
NG_012825.1:g.48594_48595del
NG_012825.2:g.91295_91296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1232_1233del MANE Select	ENSP00000355739.3:p.Glu411GlyfsTer21
ENST00000366779.6:c.*5959_*5960del	ENSP00000355741.2:n.*5959_*5960del
ENST00000676884.1:c.*6081_*6082del	ENSP00000503200.1:n.*6081_*6082del
ENST00000366777.3:c.1232_1233del	ENSP00000355739.3:p.Glu411GlyfsTer21
ENST00000366778.5:c.1076_1077del	ENSP00000355740.1:p.Glu359GlyfsTer21
ENST00000366779.5:c.1232_1233del	ENSP00000355741.1:p.Glu411GlyfsTer21
ENST00000478406.5:n.1855_1856del
ENST00000479852.1:n.180_181del
ENST00000485462.5:n.622_623del
NM_020247.4:c.1232_1233del	NP_064632.2:p.Glu411GlyfsTer21
XM_005273201.1:c.1232_1233del	XP_005273258.1:p.Glu411GlyfsTer21
XM_011544238.1:c.1232_1233del	XP_011542540.1:p.Glu411GlyfsTer21
XM_011544239.1:c.1232_1233del	XP_011542541.1:p.Glu411GlyfsTer21
XM_011544240.1:c.1232_1233del	XP_011542542.1:p.Glu411GlyfsTer21
XM_011544241.1:c.1232_1233del	XP_011542543.1:p.Glu411GlyfsTer21
XM_011544239.2:c.1232_1233del	XP_011542541.1:p.Glu411GlyfsTer21
XM_011544241.2:c.1232_1233del	XP_011542543.1:p.Glu411GlyfsTer21
XM_017001852.1:c.1232_1233del	XP_016857341.1:p.Glu411GlyfsTer21
XM_024448517.1:c.1232_1233del	XP_024304285.1:p.Glu411GlyfsTer21
XM_024448518.1:c.1232_1233del	XP_024304286.1:p.Glu411GlyfsTer21
NM_020247.5:c.1232_1233del MANE Select	NP_064632.2:p.Glu411GlyfsTer21