Canonical Allele Identifier: CA1225123651

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983241_226983242delinsAG , CM000663.2:g.226983241_226983242delinsAG	GRCh38
NC_000001.10:g.227170942_227170943delinsAG , CM000663.1:g.227170942_227170943delinsAG	GRCh37
NC_000001.9:g.225237565_225237566delinsAG	NCBI36
NG_012825.1:g.48005_48006delinsAG
NG_012825.2:g.90706_90707delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+207_1080+208delinsAG MANE Select	ENSP00000355739.3:n.1080+207_1080+208delinsAG
ENST00000366779.6:c.*5807+207_*5807+208delinsAG	ENSP00000355741.2:n.*5807+207_*5807+208delinsAG
ENST00000676884.1:c.*5929+207_*5929+208delinsAG	ENSP00000503200.1:n.*5929+207_*5929+208delinsAG
ENST00000366777.3:c.1080+207_1080+208delinsAG	ENSP00000355739.3:n.1080+207_1080+208delinsAG
ENST00000366778.5:c.924+207_924+208delinsAG	ENSP00000355740.1:n.924+207_924+208delinsAG
ENST00000366779.5:c.1080+207_1080+208delinsAG	ENSP00000355741.1:n.1080+207_1080+208delinsAG
ENST00000478406.5:n.1266_1267delinsAG
ENST00000479852.1:n.28+207_28+208delinsAG
ENST00000485462.5:n.470+207_470+208delinsAG
NM_020247.4:c.1080+207_1080+208delinsAG	NP_064632.2:n.1080+207_1080+208delinsAG
XM_005273201.1:c.1080+207_1080+208delinsAG	XP_005273258.1:n.1080+207_1080+208delinsAG
XM_011544238.1:c.1080+207_1080+208delinsAG	XP_011542540.1:n.1080+207_1080+208delinsAG
XM_011544239.1:c.1080+207_1080+208delinsAG	XP_011542541.1:n.1080+207_1080+208delinsAG
XM_011544240.1:c.1080+207_1080+208delinsAG	XP_011542542.1:n.1080+207_1080+208delinsAG
XM_011544241.1:c.1080+207_1080+208delinsAG	XP_011542543.1:n.1080+207_1080+208delinsAG
XM_011544239.2:c.1080+207_1080+208delinsAG	XP_011542541.1:n.1080+207_1080+208delinsAG
XM_011544241.2:c.1080+207_1080+208delinsAG	XP_011542543.1:n.1080+207_1080+208delinsAG
XM_017001852.1:c.1080+207_1080+208delinsAG	XP_016857341.1:n.1080+207_1080+208delinsAG
XM_024448517.1:c.1080+207_1080+208delinsAG	XP_024304285.1:n.1080+207_1080+208delinsAG
XM_024448518.1:c.1080+207_1080+208delinsAG	XP_024304286.1:n.1080+207_1080+208delinsAG
NM_020247.5:c.1080+207_1080+208delinsAG MANE Select	NP_064632.2:n.1080+207_1080+208delinsAG