Canonical Allele Identifier: CA1225114552

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965539_226965542delinsTTGG , CM000663.2:g.226965539_226965542delinsTTGG	GRCh38
NC_000001.10:g.227153240_227153243delinsTTGG , CM000663.1:g.227153240_227153243delinsTTGG	GRCh37
NC_000001.9:g.225219863_225219866delinsTTGG	NCBI36
NG_012825.1:g.30303_30306delinsTTGG
NG_012825.2:g.73004_73007delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.588+129_589-129delinsTTGG MANE Select	ENSP00000355739.3:n.588+129_589-129delinsTTGG
ENST00000366779.6:c.*5315+129_*5316-129delinsTTGG	ENSP00000355741.2:n.*5315+129_*5316-129delinsTTGG
ENST00000676884.1:c.*5437+129_*5438-129delinsTTGG	ENSP00000503200.1:n.*5437+129_*5438-129delinsTTGG
ENST00000366777.3:c.588+129_589-129delinsTTGG	ENSP00000355739.3:n.588+129_589-129delinsTTGG
ENST00000366778.5:c.432+129_433-129delinsTTGG	ENSP00000355740.1:n.432+129_433-129delinsTTGG
ENST00000366779.5:c.588+129_589-129delinsTTGG	ENSP00000355741.1:n.588+129_589-129delinsTTGG
ENST00000478406.5:n.107-11910_107-11907delinsTTGG
ENST00000489044.1:n.799+129_800-129delinsTTGG
NM_020247.4:c.588+129_589-129delinsTTGG	NP_064632.2:n.588+129_589-129delinsTTGG
XM_005273201.1:c.588+129_589-129delinsTTGG	XP_005273258.1:n.588+129_589-129delinsTTGG
XM_011544238.1:c.588+129_589-129delinsTTGG	XP_011542540.1:n.588+129_589-129delinsTTGG
XM_011544239.1:c.588+129_589-129delinsTTGG	XP_011542541.1:n.588+129_589-129delinsTTGG
XM_011544240.1:c.588+129_589-129delinsTTGG	XP_011542542.1:n.588+129_589-129delinsTTGG
XM_011544241.1:c.588+129_589-129delinsTTGG	XP_011542543.1:n.588+129_589-129delinsTTGG
XM_011544239.2:c.588+129_589-129delinsTTGG	XP_011542541.1:n.588+129_589-129delinsTTGG
XM_011544241.2:c.588+129_589-129delinsTTGG	XP_011542543.1:n.588+129_589-129delinsTTGG
XM_017001852.1:c.588+129_589-129delinsTTGG	XP_016857341.1:n.588+129_589-129delinsTTGG
XM_024448517.1:c.588+129_589-129delinsTTGG	XP_024304285.1:n.588+129_589-129delinsTTGG
XM_024448518.1:c.588+129_589-129delinsTTGG	XP_024304286.1:n.588+129_589-129delinsTTGG
NM_020247.5:c.588+129_589-129delinsTTGG MANE Select	NP_064632.2:n.588+129_589-129delinsTTGG