Canonical Allele Identifier: CA1148334372

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983863_226983875delinsCCCGGCCGGGCCC , CM000663.2:g.226983863_226983875delinsCCCGGCCGGGCCC	GRCh38
NC_000001.10:g.227171564_227171576delinsCCCGGCCGGGCCC , CM000663.1:g.227171564_227171576delinsCCCGGCCGGGCCC	GRCh37
NC_000001.9:g.225238187_225238199delinsCCCGGCCGGGCCC	NCBI36
NG_012825.1:g.48627_48639delinsCCCGGCCGGGCCC
NG_012825.2:g.91328_91340delinsCCCGGCCGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+9_1256+21delinsCCCGGCCGGGCCC MANE Select	ENSP00000355739.3:n.1256+9_1256+21delinsCCCGGCCGGGCCC
ENST00000366779.6:c.*5983+9_*5983+21delinsCCCGGCCGGGCCC	ENSP00000355741.2:n.*5983+9_*5983+21delinsCCCGGCCGGGCCC
ENST00000366777.3:c.1256+9_1256+21delinsCCCGGCCGGGCCC	ENSP00000355739.3:n.1256+9_1256+21delinsCCCGGCCGGGCCC
ENST00000366778.5:c.1100+9_1100+21delinsCCCGGCCGGGCCC	ENSP00000355740.1:n.1100+9_1100+21delinsCCCGGCCGGGCCC
ENST00000366779.5:c.1256+9_1256+21delinsCCCGGCCGGGCCC	ENSP00000355741.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
ENST00000478406.5:n.1888_1900delinsCCCGGCCGGGCCC
ENST00000479852.1:n.213_225delinsCCCGGCCGGGCCC
ENST00000485462.5:n.646+9_646+21delinsCCCGGCCGGGCCC
NM_020247.4:c.1256+9_1256+21delinsCCCGGCCGGGCCC	NP_064632.2:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_005273201.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_005273258.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544238.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542540.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544239.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542541.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544240.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542542.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544241.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542543.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544239.2:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542541.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_011544241.2:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_011542543.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_017001852.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_016857341.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_024448517.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_024304285.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
XM_024448518.1:c.1256+9_1256+21delinsCCCGGCCGGGCCC	XP_024304286.1:n.1256+9_1256+21delinsCCCGGCCGGGCCC
NM_020247.5:c.1256+9_1256+21delinsCCCGGCCGGGCCC MANE Select	NP_064632.2:n.1256+9_1256+21delinsCCCGGCCGGGCCC