Canonical Allele Identifier: CA1225123507

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982959_226982960delinsCT , CM000663.2:g.226982959_226982960delinsCT	GRCh38
NC_000001.10:g.227170660_227170661delinsCT , CM000663.1:g.227170660_227170661delinsCT	GRCh37
NC_000001.9:g.225237283_225237284delinsCT	NCBI36
NG_012825.1:g.47723_47724delinsCT
NG_012825.2:g.90424_90425delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1005_1006delinsCT MANE Select	ENSP00000355739.3:p.Pro335=
ENST00000366779.6:c.*5732_*5733delinsCT	ENSP00000355741.2:n.*5732_*5733delinsCT
ENST00000676884.1:c.*5854_*5855delinsCT	ENSP00000503200.1:n.*5854_*5855delinsCT
ENST00000366777.3:c.1005_1006delinsCT	ENSP00000355739.3:p.Pro335=
ENST00000366778.5:c.849_850delinsCT	ENSP00000355740.1:p.Pro283=
ENST00000366779.5:c.1005_1006delinsCT	ENSP00000355741.1:p.Pro335=
ENST00000478406.5:n.984_985delinsCT
ENST00000485462.5:n.395_396delinsCT
NM_020247.4:c.1005_1006delinsCT	NP_064632.2:p.Pro335=
XM_005273201.1:c.1005_1006delinsCT	XP_005273258.1:p.Pro335=
XM_011544238.1:c.1005_1006delinsCT	XP_011542540.1:p.Pro335=
XM_011544239.1:c.1005_1006delinsCT	XP_011542541.1:p.Pro335=
XM_011544240.1:c.1005_1006delinsCT	XP_011542542.1:p.Pro335=
XM_011544241.1:c.1005_1006delinsCT	XP_011542543.1:p.Pro335=
XM_011544239.2:c.1005_1006delinsCT	XP_011542541.1:p.Pro335=
XM_011544241.2:c.1005_1006delinsCT	XP_011542543.1:p.Pro335=
XM_017001852.1:c.1005_1006delinsCT	XP_016857341.1:p.Pro335=
XM_024448517.1:c.1005_1006delinsCT	XP_024304285.1:p.Pro335=
XM_024448518.1:c.1005_1006delinsCT	XP_024304286.1:p.Pro335=
NM_020247.5:c.1005_1006delinsCT MANE Select	NP_064632.2:p.Pro335=