Canonical Allele Identifier: CA2574145802

Gene: COQ8A

Linked Data

• ClinVar Variation Id: 2693008
• ClinVar RCV Id: RCV003543303

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983591_226983593del , CM000663.2:g.226983591_226983593del	GRCh38
NC_000001.10:g.227171292_227171294del , CM000663.1:g.227171292_227171294del	GRCh37
NC_000001.9:g.225237915_225237917del	NCBI36
NG_012825.1:g.48355_48357del
NG_012825.2:g.91056_91058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1120_1122del MANE Select	ENSP00000355739.3:p.Asn374del
ENST00000366779.6:c.*5847_*5849del	ENSP00000355741.2:n.*5847_*5849del
ENST00000676884.1:c.*5969_*5971del	ENSP00000503200.1:n.*5969_*5971del
ENST00000366777.3:c.1120_1122del	ENSP00000355739.3:p.Asn374del
ENST00000366778.5:c.964_966del	ENSP00000355740.1:p.Asn322del
ENST00000366779.5:c.1120_1122del	ENSP00000355741.1:p.Asn374del
ENST00000478406.5:n.1616_1618del
ENST00000479852.1:n.68_70del
ENST00000485462.5:n.510_512del
NM_020247.4:c.1120_1122del	NP_064632.2:p.Asn374del
XM_005273201.1:c.1120_1122del	XP_005273258.1:p.Asn374del
XM_011544238.1:c.1120_1122del	XP_011542540.1:p.Asn374del
XM_011544239.1:c.1120_1122del	XP_011542541.1:p.Asn374del
XM_011544240.1:c.1120_1122del	XP_011542542.1:p.Asn374del
XM_011544241.1:c.1120_1122del	XP_011542543.1:p.Asn374del
XM_011544239.2:c.1120_1122del	XP_011542541.1:p.Asn374del
XM_011544241.2:c.1120_1122del	XP_011542543.1:p.Asn374del
XM_017001852.1:c.1120_1122del	XP_016857341.1:p.Asn374del
XM_024448517.1:c.1120_1122del	XP_024304285.1:p.Asn374del
XM_024448518.1:c.1120_1122del	XP_024304286.1:p.Asn374del
NM_020247.5:c.1120_1122del MANE Select	NP_064632.2:p.Asn374del