Canonical Allele Identifier: CA1225123402

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982756_226982762delinsAGATGAT , CM000663.2:g.226982756_226982762delinsAGATGAT	GRCh38
NC_000001.10:g.227170457_227170463delinsAGATGAT , CM000663.1:g.227170457_227170463delinsAGATGAT	GRCh37
NC_000001.9:g.225237080_225237086delinsAGATGAT	NCBI36
NG_012825.1:g.47520_47526delinsAGATGAT
NG_012825.2:g.90221_90227delinsAGATGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.932_938delinsAGATGAT MANE Select	ENSP00000355739.3:p.Gln311=
ENST00000366779.6:c.*5659_*5665delinsAGATGAT	ENSP00000355741.2:n.*5659_*5665delinsAGATGAT
ENST00000676884.1:c.*5781_*5787delinsAGATGAT	ENSP00000503200.1:n.*5781_*5787delinsAGATGAT
ENST00000366777.3:c.932_938delinsAGATGAT	ENSP00000355739.3:p.Gln311=
ENST00000366778.5:c.776_782delinsAGATGAT	ENSP00000355740.1:p.Gln259=
ENST00000366779.5:c.932_938delinsAGATGAT	ENSP00000355741.1:p.Gln311=
ENST00000478406.5:n.911_917delinsAGATGAT
ENST00000485462.5:n.322_328delinsAGATGAT
NM_020247.4:c.932_938delinsAGATGAT	NP_064632.2:p.Gln311=
XM_005273201.1:c.932_938delinsAGATGAT	XP_005273258.1:p.Gln311=
XM_011544238.1:c.932_938delinsAGATGAT	XP_011542540.1:p.Gln311=
XM_011544239.1:c.932_938delinsAGATGAT	XP_011542541.1:p.Gln311=
XM_011544240.1:c.932_938delinsAGATGAT	XP_011542542.1:p.Gln311=
XM_011544241.1:c.932_938delinsAGATGAT	XP_011542543.1:p.Gln311=
XM_011544239.2:c.932_938delinsAGATGAT	XP_011542541.1:p.Gln311=
XM_011544241.2:c.932_938delinsAGATGAT	XP_011542543.1:p.Gln311=
XM_017001852.1:c.932_938delinsAGATGAT	XP_016857341.1:p.Gln311=
XM_024448517.1:c.932_938delinsAGATGAT	XP_024304285.1:p.Gln311=
XM_024448518.1:c.932_938delinsAGATGAT	XP_024304286.1:p.Gln311=
NM_020247.5:c.932_938delinsAGATGAT MANE Select	NP_064632.2:p.Gln311=