Canonical Allele Identifier: CA2574145761

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982981_226982984del , CM000663.2:g.226982981_226982984del	GRCh38
NC_000001.10:g.227170682_227170685del , CM000663.1:g.227170682_227170685del	GRCh37
NC_000001.9:g.225237305_225237308del	NCBI36
NG_012825.1:g.47745_47748del
NG_012825.2:g.90446_90449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1027_1030del MANE Select	ENSP00000355739.3:p.Gln343CysfsTer6
ENST00000366779.6:c.*5754_*5757del	ENSP00000355741.2:n.*5754_*5757del
ENST00000676884.1:c.*5876_*5879del	ENSP00000503200.1:n.*5876_*5879del
ENST00000366777.3:c.1027_1030del	ENSP00000355739.3:p.Gln343CysfsTer6
ENST00000366778.5:c.871_874del	ENSP00000355740.1:p.Gln291CysfsTer6
ENST00000366779.5:c.1027_1030del	ENSP00000355741.1:p.Gln343CysfsTer6
ENST00000478406.5:n.1006_1009del
ENST00000485462.5:n.417_420del
NM_020247.4:c.1027_1030del	NP_064632.2:p.Gln343CysfsTer6
XM_005273201.1:c.1027_1030del	XP_005273258.1:p.Gln343CysfsTer6
XM_011544238.1:c.1027_1030del	XP_011542540.1:p.Gln343CysfsTer6
XM_011544239.1:c.1027_1030del	XP_011542541.1:p.Gln343CysfsTer6
XM_011544240.1:c.1027_1030del	XP_011542542.1:p.Gln343CysfsTer6
XM_011544241.1:c.1027_1030del	XP_011542543.1:p.Gln343CysfsTer6
XM_011544239.2:c.1027_1030del	XP_011542541.1:p.Gln343CysfsTer6
XM_011544241.2:c.1027_1030del	XP_011542543.1:p.Gln343CysfsTer6
XM_017001852.1:c.1027_1030del	XP_016857341.1:p.Gln343CysfsTer6
XM_024448517.1:c.1027_1030del	XP_024304285.1:p.Gln343CysfsTer6
XM_024448518.1:c.1027_1030del	XP_024304286.1:p.Gln343CysfsTer6
NM_020247.5:c.1027_1030del MANE Select	NP_064632.2:p.Gln343CysfsTer6