Canonical Allele Identifier: CA2585174519

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40703766-C-CGGCAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703766_40703767insGGCAAT , CM000681.2:g.40703766_40703767insGGCAAT	GRCh38
NC_000019.9:g.41209671_41209672insGGCAAT , CM000681.1:g.41209671_41209672insGGCAAT	GRCh37
NC_000019.8:g.45901511_45901512insGGCAAT	NCBI36
NG_027800.1:g.18119_18120insATTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.665_666insATTGCC MANE Select	ENSP00000315118.3:p.Gln222_Val223insLeuPro
ENST00000593724.2:n.393-145_393-144insATTGCC
ENST00000594490.6:c.587_588insATTGCC	ENSP00000471310.2:p.Gln196_Val197insLeuPro
ENST00000594720.6:c.665_666insATTGCC	ENSP00000470876.2:p.Gln222_Val223insLeuPro
ENST00000596455.6:n.957_958insATTGCC
ENST00000601967.6:c.665_666insATTGCC	ENSP00000470916.2:p.Gln222_Val223insLeuPro
ENST00000676555.1:c.665_666insATTGCC	ENSP00000503387.1:p.Gln222_Val223insLeuPro
ENST00000676578.1:c.*407_*408insATTGCC	ENSP00000504076.1:n.*407_*408insATTGCC
ENST00000676960.1:n.790_791insATTGCC
ENST00000676962.1:n.944_945insATTGCC
ENST00000677018.1:c.665_666insATTGCC	ENSP00000503480.1:p.Gln222_Val223insLeuPro
ENST00000677039.1:n.720_721insATTGCC
ENST00000677399.1:n.1107_1108insATTGCC
ENST00000677496.1:c.338_339insATTGCC	ENSP00000504773.1:p.Gln113_Val114insLeuPro
ENST00000677517.1:c.338_339insATTGCC	ENSP00000503519.1:p.Gln113_Val114insLeuPro
ENST00000677633.1:c.*88_*89insATTGCC	ENSP00000503645.1:n.*88_*89insATTGCC
ENST00000677800.1:c.*3769_*3770insATTGCC	ENSP00000503794.1:n.*3769_*3770insATTGCC
ENST00000678057.1:c.*229_*230insATTGCC	ENSP00000503762.1:n.*229_*230insATTGCC
ENST00000678119.1:n.859_860insATTGCC
ENST00000678166.1:n.861-145_861-144insATTGCC
ENST00000678312.1:n.1002_1003insATTGCC
ENST00000678316.1:c.*88_*89insATTGCC	ENSP00000504112.1:n.*88_*89insATTGCC
ENST00000678371.1:n.1023_1024insATTGCC
ENST00000678404.1:c.665_666insATTGCC	ENSP00000503944.1:p.Gln222_Val223insLeuPro
ENST00000678419.1:c.665_666insATTGCC	ENSP00000504085.1:p.Gln222_Val223insLeuPro
ENST00000678433.1:n.1025_1026insATTGCC
ENST00000678467.1:c.665_666insATTGCC	ENSP00000504072.1:p.Gln222_Val223insLeuPro
ENST00000678569.1:c.665_666insATTGCC	ENSP00000504261.1:p.Gln222_Val223insLeuPro
ENST00000678961.1:n.848_849insATTGCC
ENST00000679002.1:n.844_845insATTGCC
ENST00000679012.1:c.221_222insATTGCC	ENSP00000504446.1:p.Gln74_Val75insLeuPro
ENST00000679070.1:c.*88_*89insATTGCC	ENSP00000503759.1:n.*88_*89insATTGCC
ENST00000679130.1:c.665_666insATTGCC	ENSP00000504845.1:p.Gln222_Val223insLeuPro
ENST00000679315.1:c.*495_*496insATTGCC	ENSP00000503065.1:n.*495_*496insATTGCC
ENST00000243583.10:c.542_543insATTGCC	ENSP00000243583.5:p.Gln181_Val182insLeuPro
ENST00000324464.7:c.665_666insATTGCC	ENSP00000315118.3:p.Gln222_Val223insLeuPro
ENST00000595254.5:c.338_339insATTGCC	ENSP00000470894.1:p.Gln113_Val114insLeuPro
ENST00000596455.5:n.785_786insATTGCC
ENST00000599643.5:c.336-145_336-144insATTGCC	ENSP00000471192.1:n.336-145_336-144insATTGCC
ENST00000601304.5:c.*439_*440insATTGCC	ENSP00000472519.1:n.*439_*440insATTGCC
ENST00000601967.5:c.665_666insATTGCC	ENSP00000470916.1:p.Gln222_Val223insLeuPro
NM_001142555.2:c.542_543insATTGCC	NP_001136027.1:p.Gln181_Val182insLeuPro
NM_024876.3:c.665_666insATTGCC	NP_079152.3:p.Gln222_Val223insLeuPro
XM_005259270.3:c.827_828insATTGCC	XP_005259327.2:p.Gln276_Val277insLeuPro
XM_005259271.3:c.665_666insATTGCC	XP_005259328.1:p.Gln222_Val223insLeuPro
XM_005259272.3:c.665_666insATTGCC	XP_005259329.1:p.Gln222_Val223insLeuPro
XM_005259273.3:c.665_666insATTGCC	XP_005259330.1:p.Gln222_Val223insLeuPro
XM_006723392.2:c.665_666insATTGCC	XP_006723455.1:p.Gln222_Val223insLeuPro
XM_006723393.2:c.665_666insATTGCC	XP_006723456.1:p.Gln222_Val223insLeuPro
XM_011527334.1:c.665_666insATTGCC	XP_011525636.1:p.Gln222_Val223insLeuPro
XM_011527335.1:c.577-145_577-144insATTGCC	XP_011525637.1:n.577-145_577-144insATTGCC
XM_011527336.1:c.695_696insATTGCC	XP_011525638.1:p.Gln232_Val233insLeuPro
XM_011527337.1:c.665_666insATTGCC	XP_011525639.1:p.Gln222_Val223insLeuPro
XM_011527338.1:c.665_666insATTGCC	XP_011525640.1:p.Gln222_Val223insLeuPro
NM_024876.4:c.665_666insATTGCC MANE Select	NP_079152.3:p.Gln222_Val223insLeuPro
NM_001142555.3:c.542_543insATTGCC	NP_001136027.1:p.Gln181_Val182insLeuPro