Canonical Allele Identifier: CA1225124114

Gene: COQ8A

Linked Data

• dbSNP Id: rs1659912882

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984134_226984145del , CM000663.2:g.226984134_226984145del	GRCh38
NC_000001.10:g.227171835_227171846del , CM000663.1:g.227171835_227171846del	GRCh37
NC_000001.9:g.225238458_225238469del	NCBI36
NG_012825.1:g.48898_48909del
NG_012825.2:g.91599_91610del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1297_1308del MANE Select	ENSP00000355739.3:p.Ile433_Glu436del
ENST00000366779.6:c.*6024_*6035del	ENSP00000355741.2:n.*6024_*6035del
ENST00000366777.3:c.1297_1308del	ENSP00000355739.3:p.Ile433_Glu436del
ENST00000366778.5:c.1141_1152del	ENSP00000355740.1:p.Ile381_Glu384del
ENST00000366779.5:c.1297_1308del	ENSP00000355741.1:p.Ile433_Glu436del
ENST00000478406.5:n.2159_2170del
ENST00000479852.1:n.484_495del
ENST00000485462.5:n.687_698del
NM_020247.4:c.1297_1308del	NP_064632.2:p.Ile433_Glu436del
XM_005273201.1:c.1297_1308del	XP_005273258.1:p.Ile433_Glu436del
XM_011544238.1:c.1297_1308del	XP_011542540.1:p.Ile433_Glu436del
XM_011544239.1:c.1297_1308del	XP_011542541.1:p.Ile433_Glu436del
XM_011544240.1:c.1297_1308del	XP_011542542.1:p.Ile433_Glu436del
XM_011544241.1:c.1297_1308del	XP_011542543.1:p.Ile433_Glu436del
XM_011544239.2:c.1297_1308del	XP_011542541.1:p.Ile433_Glu436del
XM_011544241.2:c.1297_1308del	XP_011542543.1:p.Ile433_Glu436del
XM_017001852.1:c.1297_1308del	XP_016857341.1:p.Ile433_Glu436del
XM_024448517.1:c.1297_1308del	XP_024304285.1:p.Ile433_Glu436del
XM_024448518.1:c.1297_1308del	XP_024304286.1:p.Ile433_Glu436del
NM_020247.5:c.1297_1308del MANE Select	NP_064632.2:p.Ile433_Glu436del