Canonical Allele Identifier: CA1225123977

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983881_226983882delinsGT , CM000663.2:g.226983881_226983882delinsGT	GRCh38
NC_000001.10:g.227171582_227171583delinsGT , CM000663.1:g.227171582_227171583delinsGT	GRCh37
NC_000001.9:g.225238205_225238206delinsGT	NCBI36
NG_012825.1:g.48645_48646delinsGT
NG_012825.2:g.91346_91347delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+27_1256+28delinsGT MANE Select	ENSP00000355739.3:n.1256+27_1256+28delinsGT
ENST00000366779.6:c.*5983+27_*5983+28delinsGT	ENSP00000355741.2:n.*5983+27_*5983+28delinsGT
ENST00000366777.3:c.1256+27_1256+28delinsGT	ENSP00000355739.3:n.1256+27_1256+28delinsGT
ENST00000366778.5:c.1100+27_1100+28delinsGT	ENSP00000355740.1:n.1100+27_1100+28delinsGT
ENST00000366779.5:c.1256+27_1256+28delinsGT	ENSP00000355741.1:n.1256+27_1256+28delinsGT
ENST00000478406.5:n.1906_1907delinsGT
ENST00000479852.1:n.231_232delinsGT
ENST00000485462.5:n.646+27_646+28delinsGT
NM_020247.4:c.1256+27_1256+28delinsGT	NP_064632.2:n.1256+27_1256+28delinsGT
XM_005273201.1:c.1256+27_1256+28delinsGT	XP_005273258.1:n.1256+27_1256+28delinsGT
XM_011544238.1:c.1256+27_1256+28delinsGT	XP_011542540.1:n.1256+27_1256+28delinsGT
XM_011544239.1:c.1256+27_1256+28delinsGT	XP_011542541.1:n.1256+27_1256+28delinsGT
XM_011544240.1:c.1256+27_1256+28delinsGT	XP_011542542.1:n.1256+27_1256+28delinsGT
XM_011544241.1:c.1256+27_1256+28delinsGT	XP_011542543.1:n.1256+27_1256+28delinsGT
XM_011544239.2:c.1256+27_1256+28delinsGT	XP_011542541.1:n.1256+27_1256+28delinsGT
XM_011544241.2:c.1256+27_1256+28delinsGT	XP_011542543.1:n.1256+27_1256+28delinsGT
XM_017001852.1:c.1256+27_1256+28delinsGT	XP_016857341.1:n.1256+27_1256+28delinsGT
XM_024448517.1:c.1256+27_1256+28delinsGT	XP_024304285.1:n.1256+27_1256+28delinsGT
XM_024448518.1:c.1256+27_1256+28delinsGT	XP_024304286.1:n.1256+27_1256+28delinsGT
NM_020247.5:c.1256+27_1256+28delinsGT MANE Select	NP_064632.2:n.1256+27_1256+28delinsGT