Canonical Allele Identifier: CA2650793612

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983238-CAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983239_226983242del , CM000663.2:g.226983239_226983242del	GRCh38
NC_000001.10:g.227170940_227170943del , CM000663.1:g.227170940_227170943del	GRCh37
NC_000001.9:g.225237563_225237566del	NCBI36
NG_012825.1:g.48003_48006del
NG_012825.2:g.90704_90707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+205_1080+208del MANE Select	ENSP00000355739.3:n.1080+205_1080+208del
ENST00000366779.6:c.*5807+205_*5807+208del	ENSP00000355741.2:n.*5807+205_*5807+208del
ENST00000676884.1:c.*5929+205_*5929+208del	ENSP00000503200.1:n.*5929+205_*5929+208del
ENST00000366777.3:c.1080+205_1080+208del	ENSP00000355739.3:n.1080+205_1080+208del
ENST00000366778.5:c.924+205_924+208del	ENSP00000355740.1:n.924+205_924+208del
ENST00000366779.5:c.1080+205_1080+208del	ENSP00000355741.1:n.1080+205_1080+208del
ENST00000478406.5:n.1264_1267del
ENST00000479852.1:n.28+205_28+208del
ENST00000485462.5:n.470+205_470+208del
NM_020247.4:c.1080+205_1080+208del	NP_064632.2:n.1080+205_1080+208del
XM_005273201.1:c.1080+205_1080+208del	XP_005273258.1:n.1080+205_1080+208del
XM_011544238.1:c.1080+205_1080+208del	XP_011542540.1:n.1080+205_1080+208del
XM_011544239.1:c.1080+205_1080+208del	XP_011542541.1:n.1080+205_1080+208del
XM_011544240.1:c.1080+205_1080+208del	XP_011542542.1:n.1080+205_1080+208del
XM_011544241.1:c.1080+205_1080+208del	XP_011542543.1:n.1080+205_1080+208del
XM_011544239.2:c.1080+205_1080+208del	XP_011542541.1:n.1080+205_1080+208del
XM_011544241.2:c.1080+205_1080+208del	XP_011542543.1:n.1080+205_1080+208del
XM_017001852.1:c.1080+205_1080+208del	XP_016857341.1:n.1080+205_1080+208del
XM_024448517.1:c.1080+205_1080+208del	XP_024304285.1:n.1080+205_1080+208del
XM_024448518.1:c.1080+205_1080+208del	XP_024304286.1:n.1080+205_1080+208del
NM_020247.5:c.1080+205_1080+208del MANE Select	NP_064632.2:n.1080+205_1080+208del