Canonical Allele Identifier: CA1225124284

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984442_226984443delinsAG , CM000663.2:g.226984442_226984443delinsAG	GRCh38
NC_000001.10:g.227172143_227172144delinsAG , CM000663.1:g.227172143_227172144delinsAG	GRCh37
NC_000001.9:g.225238766_225238767delinsAG	NCBI36
NG_012825.1:g.49206_49207delinsAG
NG_012825.2:g.91907_91908delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-106_1399-105delinsAG MANE Select	ENSP00000355739.3:n.1399-106_1399-105delinsAG
ENST00000366779.6:c.*6126-106_*6126-105delinsAG	ENSP00000355741.2:n.*6126-106_*6126-105delinsAG
ENST00000366777.3:c.1399-106_1399-105delinsAG	ENSP00000355739.3:n.1399-106_1399-105delinsAG
ENST00000366778.5:c.1243-106_1243-105delinsAG	ENSP00000355740.1:n.1243-106_1243-105delinsAG
ENST00000366779.5:c.1399-106_1399-105delinsAG	ENSP00000355741.1:n.1399-106_1399-105delinsAG
ENST00000478406.5:n.2261-106_2261-105delinsAG
ENST00000479852.1:n.586-106_586-105delinsAG
ENST00000485462.5:n.789-106_789-105delinsAG
NM_020247.4:c.1399-106_1399-105delinsAG	NP_064632.2:n.1399-106_1399-105delinsAG
XM_005273201.1:c.1399-106_1399-105delinsAG	XP_005273258.1:n.1399-106_1399-105delinsAG
XM_011544238.1:c.1399-106_1399-105delinsAG	XP_011542540.1:n.1399-106_1399-105delinsAG
XM_011544239.1:c.1399-106_1399-105delinsAG	XP_011542541.1:n.1399-106_1399-105delinsAG
XM_011544240.1:c.1399-106_1399-105delinsAG	XP_011542542.1:n.1399-106_1399-105delinsAG
XM_011544241.1:c.1399-106_1399-105delinsAG	XP_011542543.1:n.1399-106_1399-105delinsAG
XM_011544239.2:c.1399-106_1399-105delinsAG	XP_011542541.1:n.1399-106_1399-105delinsAG
XM_011544241.2:c.1399-106_1399-105delinsAG	XP_011542543.1:n.1399-106_1399-105delinsAG
XM_017001852.1:c.1399-106_1399-105delinsAG	XP_016857341.1:n.1399-106_1399-105delinsAG
XM_024448517.1:c.1399-106_1399-105delinsAG	XP_024304285.1:n.1399-106_1399-105delinsAG
XM_024448518.1:c.1399-106_1399-105delinsAG	XP_024304286.1:n.1399-106_1399-105delinsAG
NM_020247.5:c.1399-106_1399-105delinsAG MANE Select	NP_064632.2:n.1399-106_1399-105delinsAG