Canonical Allele Identifier: CA1225114628

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226965615_226965619delinsAGGTT , CM000663.2:g.226965615_226965619delinsAGGTT	GRCh38
NC_000001.10:g.227153316_227153320delinsAGGTT , CM000663.1:g.227153316_227153320delinsAGGTT	GRCh37
NC_000001.9:g.225219939_225219943delinsAGGTT	NCBI36
NG_012825.1:g.30379_30383delinsAGGTT
NG_012825.2:g.73080_73084delinsAGGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.589-56_589-52delinsAGGTT MANE Select	ENSP00000355739.3:n.589-56_589-52delinsAG...
ENST00000366779.6:c.*5316-56_*5316-52delinsAGGTT	ENSP00000355741.2:n.*5316-56_*5316-52deli...
ENST00000676884.1:c.*5438-56_*5438-52delinsAGGTT	ENSP00000503200.1:n.*5438-56_*5438-52deli...
ENST00000366777.3:c.589-56_589-52delinsAGGTT	ENSP00000355739.3:n.589-56_589-52delinsAG...
ENST00000366778.5:c.433-56_433-52delinsAGGTT	ENSP00000355740.1:n.433-56_433-52delinsAG...
ENST00000366779.5:c.589-56_589-52delinsAGGTT	ENSP00000355741.1:n.589-56_589-52delinsAG...
ENST00000478406.5:n.107-11834_107-11830delinsAGGTT
ENST00000489044.1:n.800-56_800-52delinsAGGTT
NM_020247.4:c.589-56_589-52delinsAGGTT	NP_064632.2:n.589-56_589-52delinsAGGTT
XM_005273201.1:c.589-56_589-52delinsAGGTT	XP_005273258.1:n.589-56_589-52delinsAGGTT...
XM_011544238.1:c.589-56_589-52delinsAGGTT	XP_011542540.1:n.589-56_589-52delinsAGGTT...
XM_011544239.1:c.589-56_589-52delinsAGGTT	XP_011542541.1:n.589-56_589-52delinsAGGTT...
XM_011544240.1:c.589-56_589-52delinsAGGTT	XP_011542542.1:n.589-56_589-52delinsAGGTT...
XM_011544241.1:c.589-56_589-52delinsAGGTT	XP_011542543.1:n.589-56_589-52delinsAGGTT...
XM_011544239.2:c.589-56_589-52delinsAGGTT	XP_011542541.1:n.589-56_589-52delinsAGGTT...
XM_011544241.2:c.589-56_589-52delinsAGGTT	XP_011542543.1:n.589-56_589-52delinsAGGTT...
XM_017001852.1:c.589-56_589-52delinsAGGTT	XP_016857341.1:n.589-56_589-52delinsAGGTT...
XM_024448517.1:c.589-56_589-52delinsAGGTT	XP_024304285.1:n.589-56_589-52delinsAGGTT...
XM_024448518.1:c.589-56_589-52delinsAGGTT	XP_024304286.1:n.589-56_589-52delinsAGGTT...
NM_020247.5:c.589-56_589-52delinsAGGTT MANE Select	NP_064632.2:n.589-56_589-52delinsAGGTT