Canonical Allele Identifier: CA1225124567

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984971_226984973delinsCAT , CM000663.2:g.226984971_226984973delinsCAT	GRCh38
NC_000001.10:g.227172672_227172674delinsCAT , CM000663.1:g.227172672_227172674delinsCAT	GRCh37
NC_000001.9:g.225239295_225239297delinsCAT	NCBI36
NG_012825.1:g.49735_49737delinsCAT
NG_012825.2:g.92436_92438delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1572+30_1572+32delinsCAT MANE Select	ENSP00000355739.3:n.1572+30_1572+32delinsCAT
ENST00000366779.6:c.*6299+30_*6299+32delinsCAT	ENSP00000355741.2:n.*6299+30_*6299+32delinsCAT
ENST00000366777.3:c.1572+30_1572+32delinsCAT	ENSP00000355739.3:n.1572+30_1572+32delinsCAT
ENST00000366778.5:c.1416+30_1416+32delinsCAT	ENSP00000355740.1:n.1416+30_1416+32delinsCAT
ENST00000366779.5:c.1572+30_1572+32delinsCAT	ENSP00000355741.1:n.1572+30_1572+32delinsCAT
ENST00000478406.5:n.2434+30_2434+32delinsCAT
ENST00000479852.1:n.759+30_759+32delinsCAT
ENST00000485462.5:n.962+30_962+32delinsCAT
NM_020247.4:c.1572+30_1572+32delinsCAT	NP_064632.2:n.1572+30_1572+32delinsCAT
XM_005273201.1:c.1572+30_1572+32delinsCAT	XP_005273258.1:n.1572+30_1572+32delinsCAT
XM_011544238.1:c.1572+30_1572+32delinsCAT	XP_011542540.1:n.1572+30_1572+32delinsCAT
XM_011544239.1:c.1572+30_1572+32delinsCAT	XP_011542541.1:n.1572+30_1572+32delinsCAT
XM_011544240.1:c.1572+30_1572+32delinsCAT	XP_011542542.1:n.1572+30_1572+32delinsCAT
XM_011544241.1:c.1572+30_1572+32delinsCAT	XP_011542543.1:n.1572+30_1572+32delinsCAT
XM_011544239.2:c.1572+30_1572+32delinsCAT	XP_011542541.1:n.1572+30_1572+32delinsCAT
XM_011544241.2:c.1572+30_1572+32delinsCAT	XP_011542543.1:n.1572+30_1572+32delinsCAT
XM_017001852.1:c.1572+30_1572+32delinsCAT	XP_016857341.1:n.1572+30_1572+32delinsCAT
XM_024448517.1:c.1572+30_1572+32delinsCAT	XP_024304285.1:n.1572+30_1572+32delinsCAT
XM_024448518.1:c.1572+30_1572+32delinsCAT	XP_024304286.1:n.1572+30_1572+32delinsCAT
NM_020247.5:c.1572+30_1572+32delinsCAT MANE Select	NP_064632.2:n.1572+30_1572+32delinsCAT