Canonical Allele Identifier: CA1225124568

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984972_226984980delinsATGTTTTTC , CM000663.2:g.226984972_226984980delinsATGTTTTTC	GRCh38
NC_000001.10:g.227172673_227172681delinsATGTTTTTC , CM000663.1:g.227172673_227172681delinsATGTTTTTC	GRCh37
NC_000001.9:g.225239296_225239304delinsATGTTTTTC	NCBI36
NG_012825.1:g.49736_49744delinsATGTTTTTC
NG_012825.2:g.92437_92445delinsATGTTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1572+31_1572+39delinsATGTTTTTC MANE Select	ENSP00000355739.3:n.1572+31_1572+39delinsATGTTTTTC
ENST00000366779.6:c.*6299+31_*6299+39delinsATGTTTTTC	ENSP00000355741.2:n.*6299+31_*6299+39delinsATGTTTTTC
ENST00000366777.3:c.1572+31_1572+39delinsATGTTTTTC	ENSP00000355739.3:n.1572+31_1572+39delinsATGTTTTTC
ENST00000366778.5:c.1416+31_1416+39delinsATGTTTTTC	ENSP00000355740.1:n.1416+31_1416+39delinsATGTTTTTC
ENST00000366779.5:c.1572+31_1572+39delinsATGTTTTTC	ENSP00000355741.1:n.1572+31_1572+39delinsATGTTTTTC
ENST00000478406.5:n.2434+31_2434+39delinsATGTTTTTC
ENST00000479852.1:n.759+31_759+39delinsATGTTTTTC
ENST00000485462.5:n.962+31_962+39delinsATGTTTTTC
NM_020247.4:c.1572+31_1572+39delinsATGTTTTTC	NP_064632.2:n.1572+31_1572+39delinsATGTTTTTC
XM_005273201.1:c.1572+31_1572+39delinsATGTTTTTC	XP_005273258.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544238.1:c.1572+31_1572+39delinsATGTTTTTC	XP_011542540.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544239.1:c.1572+31_1572+39delinsATGTTTTTC	XP_011542541.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544240.1:c.1572+31_1572+39delinsATGTTTTTC	XP_011542542.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544241.1:c.1572+31_1572+39delinsATGTTTTTC	XP_011542543.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544239.2:c.1572+31_1572+39delinsATGTTTTTC	XP_011542541.1:n.1572+31_1572+39delinsATGTTTTTC
XM_011544241.2:c.1572+31_1572+39delinsATGTTTTTC	XP_011542543.1:n.1572+31_1572+39delinsATGTTTTTC
XM_017001852.1:c.1572+31_1572+39delinsATGTTTTTC	XP_016857341.1:n.1572+31_1572+39delinsATGTTTTTC
XM_024448517.1:c.1572+31_1572+39delinsATGTTTTTC	XP_024304285.1:n.1572+31_1572+39delinsATGTTTTTC
XM_024448518.1:c.1572+31_1572+39delinsATGTTTTTC	XP_024304286.1:n.1572+31_1572+39delinsATGTTTTTC
NM_020247.5:c.1572+31_1572+39delinsATGTTTTTC MANE Select	NP_064632.2:n.1572+31_1572+39delinsATGTTTTTC