Canonical Allele Identifier: CA2585174516

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40703734-T-TCCGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703742_40703746dup , CM000681.2:g.40703742_40703746dup	GRCh38
NC_000019.9:g.41209647_41209651dup , CM000681.1:g.41209647_41209651dup	GRCh37
NC_000019.8:g.45901487_45901491dup	NCBI36
NG_027800.1:g.18147_18151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.693_697dup MANE Select	ENSP00000315118.3:p.Glu233GlyfsTer6
ENST00000593724.2:n.393-117_393-113dup
ENST00000594490.6:c.615_619dup	ENSP00000471310.2:p.Glu207GlyfsTer6
ENST00000594720.6:c.693_697dup	ENSP00000470876.2:p.Glu233GlyfsTer6
ENST00000596455.6:n.985_989dup
ENST00000601967.6:c.693_697dup	ENSP00000470916.2:p.Glu233GlyfsTer6
ENST00000676555.1:c.693_697dup	ENSP00000503387.1:p.Glu233GlyfsTer6
ENST00000676578.1:c.*435_*439dup	ENSP00000504076.1:n.*435_*439dup
ENST00000676960.1:n.818_822dup
ENST00000676962.1:n.972_976dup
ENST00000677018.1:c.693_697dup	ENSP00000503480.1:p.Glu233GlyfsTer6
ENST00000677039.1:n.748_752dup
ENST00000677399.1:n.1135_1139dup
ENST00000677496.1:c.366_370dup	ENSP00000504773.1:p.Glu124GlyfsTer6
ENST00000677517.1:c.366_370dup	ENSP00000503519.1:p.Glu124GlyfsTer6
ENST00000677633.1:c.*116_*120dup	ENSP00000503645.1:n.*116_*120dup
ENST00000677800.1:c.*3797_*3801dup	ENSP00000503794.1:n.*3797_*3801dup
ENST00000678057.1:c.*257_*261dup	ENSP00000503762.1:n.*257_*261dup
ENST00000678119.1:n.887_891dup
ENST00000678166.1:n.861-117_861-113dup
ENST00000678312.1:n.1030_1034dup
ENST00000678316.1:c.*116_*120dup	ENSP00000504112.1:n.*116_*120dup
ENST00000678371.1:n.1051_1055dup
ENST00000678404.1:c.693_697dup	ENSP00000503944.1:p.Glu233GlyfsTer6
ENST00000678419.1:c.693_697dup	ENSP00000504085.1:p.Glu233GlyfsTer6
ENST00000678433.1:n.1053_1057dup
ENST00000678467.1:c.693_697dup	ENSP00000504072.1:p.Glu233GlyfsTer6
ENST00000678569.1:c.693_697dup	ENSP00000504261.1:p.Glu233GlyfsTer6
ENST00000678961.1:n.876_880dup
ENST00000679002.1:n.872_876dup
ENST00000679012.1:c.249_253dup	ENSP00000504446.1:p.Glu85GlyfsTer6
ENST00000679070.1:c.*116_*120dup	ENSP00000503759.1:n.*116_*120dup
ENST00000679130.1:c.693_697dup	ENSP00000504845.1:p.Glu233GlyfsTer6
ENST00000679315.1:c.*523_*527dup	ENSP00000503065.1:n.*523_*527dup
ENST00000243583.10:c.570_574dup	ENSP00000243583.5:p.Glu192GlyfsTer6
ENST00000324464.7:c.693_697dup	ENSP00000315118.3:p.Glu233GlyfsTer6
ENST00000595254.5:c.366_370dup	ENSP00000470894.1:p.Glu124GlyfsTer6
ENST00000596455.5:n.813_817dup
ENST00000599643.5:c.336-117_336-113dup	ENSP00000471192.1:n.336-117_336-113dup
ENST00000601304.5:c.*467_*471dup	ENSP00000472519.1:n.*467_*471dup
NM_001142555.2:c.570_574dup	NP_001136027.1:p.Glu192GlyfsTer6
NM_024876.3:c.693_697dup	NP_079152.3:p.Glu233GlyfsTer6
XM_005259270.3:c.855_859dup	XP_005259327.2:p.Glu287GlyfsTer6
XM_005259271.3:c.693_697dup	XP_005259328.1:p.Glu233GlyfsTer6
XM_005259272.3:c.693_697dup	XP_005259329.1:p.Glu233GlyfsTer6
XM_005259273.3:c.693_697dup	XP_005259330.1:p.Glu233GlyfsTer6
XM_006723392.2:c.693_697dup	XP_006723455.1:p.Glu233GlyfsTer6
XM_006723393.2:c.693_697dup	XP_006723456.1:p.Glu233GlyfsTer6
XM_011527334.1:c.693_697dup	XP_011525636.1:p.Glu233GlyfsTer6
XM_011527335.1:c.577-117_577-113dup	XP_011525637.1:n.577-117_577-113dup
XM_011527336.1:c.723_727dup	XP_011525638.1:p.Glu243GlyfsTer6
XM_011527337.1:c.693_697dup	XP_011525639.1:p.Glu233GlyfsTer6
XM_011527338.1:c.693_697dup	XP_011525640.1:p.Glu233GlyfsTer6
NM_024876.4:c.693_697dup MANE Select	NP_079152.3:p.Glu233GlyfsTer6
NM_001142555.3:c.570_574dup	NP_001136027.1:p.Glu192GlyfsTer6