Canonical Allele Identifier: CA2650793441

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983073-CTGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983074_226983077del , CM000663.2:g.226983074_226983077del	GRCh38
NC_000001.10:g.227170775_227170778del , CM000663.1:g.227170775_227170778del	GRCh37
NC_000001.9:g.225237398_225237401del	NCBI36
NG_012825.1:g.47838_47841del
NG_012825.2:g.90539_90542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+40_1080+43del MANE Select	ENSP00000355739.3:n.1080+40_1080+43del
ENST00000366779.6:c.*5807+40_*5807+43del	ENSP00000355741.2:n.*5807+40_*5807+43del
ENST00000676884.1:c.*5929+40_*5929+43del	ENSP00000503200.1:n.*5929+40_*5929+43del
ENST00000366777.3:c.1080+40_1080+43del	ENSP00000355739.3:n.1080+40_1080+43del
ENST00000366778.5:c.924+40_924+43del	ENSP00000355740.1:n.924+40_924+43del
ENST00000366779.5:c.1080+40_1080+43del	ENSP00000355741.1:n.1080+40_1080+43del
ENST00000478406.5:n.1099_1102del
ENST00000479852.1:n.28+40_28+43del
ENST00000485462.5:n.470+40_470+43del
NM_020247.4:c.1080+40_1080+43del	NP_064632.2:n.1080+40_1080+43del
XM_005273201.1:c.1080+40_1080+43del	XP_005273258.1:n.1080+40_1080+43del
XM_011544238.1:c.1080+40_1080+43del	XP_011542540.1:n.1080+40_1080+43del
XM_011544239.1:c.1080+40_1080+43del	XP_011542541.1:n.1080+40_1080+43del
XM_011544240.1:c.1080+40_1080+43del	XP_011542542.1:n.1080+40_1080+43del
XM_011544241.1:c.1080+40_1080+43del	XP_011542543.1:n.1080+40_1080+43del
XM_011544239.2:c.1080+40_1080+43del	XP_011542541.1:n.1080+40_1080+43del
XM_011544241.2:c.1080+40_1080+43del	XP_011542543.1:n.1080+40_1080+43del
XM_017001852.1:c.1080+40_1080+43del	XP_016857341.1:n.1080+40_1080+43del
XM_024448517.1:c.1080+40_1080+43del	XP_024304285.1:n.1080+40_1080+43del
XM_024448518.1:c.1080+40_1080+43del	XP_024304286.1:n.1080+40_1080+43del
NM_020247.5:c.1080+40_1080+43del MANE Select	NP_064632.2:n.1080+40_1080+43del