Canonical Allele Identifier: CA1225123193

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982246_226982257delinsGGCAAGATGTGA , CM000663.2:g.226982246_226982257delinsGGCAAGATGTGA	GRCh38
NC_000001.10:g.227169947_227169958delinsGGCAAGATGTGA , CM000663.1:g.227169947_227169958delinsGGCAAGATGTGA	GRCh37
NC_000001.9:g.225236570_225236581delinsGGCAAGATGTGA	NCBI36
NG_012825.1:g.47010_47021delinsGGCAAGATGTGA
NG_012825.2:g.89711_89722delinsGGCAAGATGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+97_853+108delinsGGCAAGATGTGA MANE Select	ENSP00000355739.3:n.853+97_853+108delinsGGCAAGATGTGA
ENST00000366779.6:c.*5580+97_*5580+108delinsGGCAAGATGTGA	ENSP00000355741.2:n.*5580+97_*5580+108delinsGGCAAGATGTGA
ENST00000676884.1:c.*5702+97_*5702+108delinsGGCAAGATGTGA	ENSP00000503200.1:n.*5702+97_*5702+108delinsGGCAAGATGTGA
ENST00000366777.3:c.853+97_853+108delinsGGCAAGATGTGA	ENSP00000355739.3:n.853+97_853+108delinsGGCAAGATGTGA
ENST00000366778.5:c.697+97_697+108delinsGGCAAGATGTGA	ENSP00000355740.1:n.697+97_697+108delinsGGCAAGATGTGA
ENST00000366779.5:c.853+97_853+108delinsGGCAAGATGTGA	ENSP00000355741.1:n.853+97_853+108delinsGGCAAGATGTGA
ENST00000478406.5:n.401_412delinsGGCAAGATGTGA
ENST00000485462.5:n.243+97_243+108delinsGGCAAGATGTGA
NM_020247.4:c.853+97_853+108delinsGGCAAGATGTGA	NP_064632.2:n.853+97_853+108delinsGGCAAGATGTGA
XM_005273201.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_005273258.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544238.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542540.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544239.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542541.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544240.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542542.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544241.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542543.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544239.2:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542541.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_011544241.2:c.853+97_853+108delinsGGCAAGATGTGA	XP_011542543.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_017001852.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_016857341.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_024448517.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_024304285.1:n.853+97_853+108delinsGGCAAGATGTGA
XM_024448518.1:c.853+97_853+108delinsGGCAAGATGTGA	XP_024304286.1:n.853+97_853+108delinsGGCAAGATGTGA
NM_020247.5:c.853+97_853+108delinsGGCAAGATGTGA MANE Select	NP_064632.2:n.853+97_853+108delinsGGCAAGATGTGA