Canonical Allele Identifier: CA2522264139

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982363_226982364insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC , CM000663.2:g.226982363_226982364insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	GRCh38
NC_000001.10:g.227170064_227170065insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC , CM000663.1:g.227170064_227170065insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	GRCh37
NC_000001.9:g.225236687_225236688insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	NCBI36
NG_012825.1:g.47127_47128insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC
NG_012825.2:g.89828_89829insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC MANE Select	ENSP00000355739.3:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTG...
ENST00000366779.6:c.*5580+214_*5580+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	ENSP00000355741.2:n.*5580+214_*5580+215insGTTGTGCCATACGCTGCTT...
ENST00000676884.1:c.*5702+214_*5702+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	ENSP00000503200.1:n.*5702+214_*5702+215insGTTGTGCCATACGCTGCTT...
ENST00000366777.3:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	ENSP00000355739.3:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTG...
ENST00000366778.5:c.697+214_697+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	ENSP00000355740.1:n.697+214_697+215insGTTGTGCCATACGCTGCTTGTTG...
ENST00000366779.5:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	ENSP00000355741.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTG...
ENST00000478406.5:n.518_519insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC
ENST00000485462.5:n.243+214_243+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC
NM_020247.4:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	NP_064632.2:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTG...
XM_005273201.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_005273258.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544238.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542540.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544239.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542541.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544240.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542542.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544241.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542543.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544239.2:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542541.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_011544241.2:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_011542543.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_017001852.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_016857341.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_024448517.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_024304285.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
XM_024448518.1:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC	XP_024304286.1:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTC...
NM_020247.5:c.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTGGTAAGGAAGAGATAGACCGAGTGGTGGAGATAGGGACGTTCGTTGAAGTGCCGTTCCGATGCACGGGCAAGGAAGCTCAGTCCGCCATCAGAGAGCTTTC MANE Select	NP_064632.2:n.853+214_853+215insGTTGTGCCATACGCTGCTTGTTGGTCTTG...