Canonical Allele Identifier: CA1225123489

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982913_226982914delinsTG , CM000663.2:g.226982913_226982914delinsTG	GRCh38
NC_000001.10:g.227170614_227170615delinsTG , CM000663.1:g.227170614_227170615delinsTG	GRCh37
NC_000001.9:g.225237237_225237238delinsTG	NCBI36
NG_012825.1:g.47677_47678delinsTG
NG_012825.2:g.90378_90379delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.959_960delinsTG MANE Select	ENSP00000355739.3:p.Leu320=
ENST00000366779.6:c.*5686_*5687delinsTG	ENSP00000355741.2:n.*5686_*5687delinsTG
ENST00000676884.1:c.*5808_*5809delinsTG	ENSP00000503200.1:n.*5808_*5809delinsTG
ENST00000366777.3:c.959_960delinsTG	ENSP00000355739.3:p.Leu320=
ENST00000366778.5:c.803_804delinsTG	ENSP00000355740.1:p.Leu268=
ENST00000366779.5:c.959_960delinsTG	ENSP00000355741.1:p.Leu320=
ENST00000478406.5:n.938_939delinsTG
ENST00000485462.5:n.349_350delinsTG
NM_020247.4:c.959_960delinsTG	NP_064632.2:p.Leu320=
XM_005273201.1:c.959_960delinsTG	XP_005273258.1:p.Leu320=
XM_011544238.1:c.959_960delinsTG	XP_011542540.1:p.Leu320=
XM_011544239.1:c.959_960delinsTG	XP_011542541.1:p.Leu320=
XM_011544240.1:c.959_960delinsTG	XP_011542542.1:p.Leu320=
XM_011544241.1:c.959_960delinsTG	XP_011542543.1:p.Leu320=
XM_011544239.2:c.959_960delinsTG	XP_011542541.1:p.Leu320=
XM_011544241.2:c.959_960delinsTG	XP_011542543.1:p.Leu320=
XM_017001852.1:c.959_960delinsTG	XP_016857341.1:p.Leu320=
XM_024448517.1:c.959_960delinsTG	XP_024304285.1:p.Leu320=
XM_024448518.1:c.959_960delinsTG	XP_024304286.1:p.Leu320=
NM_020247.5:c.959_960delinsTG MANE Select	NP_064632.2:p.Leu320=