Canonical Allele Identifier: CA2650794290

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983881-GTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983883_226983885del , CM000663.2:g.226983883_226983885del	GRCh38
NC_000001.10:g.227171584_227171586del , CM000663.1:g.227171584_227171586del	GRCh37
NC_000001.9:g.225238207_225238209del	NCBI36
NG_012825.1:g.48647_48649del
NG_012825.2:g.91348_91350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+29_1256+31del MANE Select	ENSP00000355739.3:n.1256+29_1256+31del
ENST00000366779.6:c.*5983+29_*5983+31del	ENSP00000355741.2:n.*5983+29_*5983+31del
ENST00000366777.3:c.1256+29_1256+31del	ENSP00000355739.3:n.1256+29_1256+31del
ENST00000366778.5:c.1100+29_1100+31del	ENSP00000355740.1:n.1100+29_1100+31del
ENST00000366779.5:c.1256+29_1256+31del	ENSP00000355741.1:n.1256+29_1256+31del
ENST00000478406.5:n.1908_1910del
ENST00000479852.1:n.233_235del
ENST00000485462.5:n.646+29_646+31del
NM_020247.4:c.1256+29_1256+31del	NP_064632.2:n.1256+29_1256+31del
XM_005273201.1:c.1256+29_1256+31del	XP_005273258.1:n.1256+29_1256+31del
XM_011544238.1:c.1256+29_1256+31del	XP_011542540.1:n.1256+29_1256+31del
XM_011544239.1:c.1256+29_1256+31del	XP_011542541.1:n.1256+29_1256+31del
XM_011544240.1:c.1256+29_1256+31del	XP_011542542.1:n.1256+29_1256+31del
XM_011544241.1:c.1256+29_1256+31del	XP_011542543.1:n.1256+29_1256+31del
XM_011544239.2:c.1256+29_1256+31del	XP_011542541.1:n.1256+29_1256+31del
XM_011544241.2:c.1256+29_1256+31del	XP_011542543.1:n.1256+29_1256+31del
XM_017001852.1:c.1256+29_1256+31del	XP_016857341.1:n.1256+29_1256+31del
XM_024448517.1:c.1256+29_1256+31del	XP_024304285.1:n.1256+29_1256+31del
XM_024448518.1:c.1256+29_1256+31del	XP_024304286.1:n.1256+29_1256+31del
NM_020247.5:c.1256+29_1256+31del MANE Select	NP_064632.2:n.1256+29_1256+31del