Canonical Allele Identifier: CA2585174517

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40703734-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40703736del , CM000681.2:g.40703736del	GRCh38
NC_000019.9:g.41209641del , CM000681.1:g.41209641del	GRCh37
NC_000019.8:g.45901481del	NCBI36
NG_027800.1:g.18151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.697del MANE Select	ENSP00000315118.3:p.Glu233ArgfsTer4
ENST00000593724.2:n.393-113del
ENST00000594490.6:c.619del	ENSP00000471310.2:p.Glu207ArgfsTer4
ENST00000594720.6:c.697del	ENSP00000470876.2:p.Glu233ArgfsTer4
ENST00000596455.6:n.989del
ENST00000601967.6:c.697del	ENSP00000470916.2:p.Glu233ArgfsTer4
ENST00000676555.1:c.697del	ENSP00000503387.1:p.Glu233ArgfsTer4
ENST00000676578.1:c.*439del	ENSP00000504076.1:n.*439del
ENST00000676960.1:n.822del
ENST00000676962.1:n.976del
ENST00000677018.1:c.697del	ENSP00000503480.1:p.Glu233ArgfsTer4
ENST00000677039.1:n.752del
ENST00000677399.1:n.1139del
ENST00000677496.1:c.370del	ENSP00000504773.1:p.Glu124ArgfsTer4
ENST00000677517.1:c.370del	ENSP00000503519.1:p.Glu124ArgfsTer4
ENST00000677633.1:c.*120del	ENSP00000503645.1:n.*120del
ENST00000677800.1:c.*3801del	ENSP00000503794.1:n.*3801del
ENST00000678057.1:c.*261del	ENSP00000503762.1:n.*261del
ENST00000678119.1:n.891del
ENST00000678166.1:n.861-113del
ENST00000678312.1:n.1034del
ENST00000678316.1:c.*120del	ENSP00000504112.1:n.*120del
ENST00000678371.1:n.1055del
ENST00000678404.1:c.697del	ENSP00000503944.1:p.Glu233ArgfsTer4
ENST00000678419.1:c.697del	ENSP00000504085.1:p.Glu233ArgfsTer4
ENST00000678433.1:n.1057del
ENST00000678467.1:c.697del	ENSP00000504072.1:p.Glu233ArgfsTer4
ENST00000678569.1:c.697del	ENSP00000504261.1:p.Glu233ArgfsTer4
ENST00000678961.1:n.880del
ENST00000679002.1:n.876del
ENST00000679012.1:c.253del	ENSP00000504446.1:p.Glu85ArgfsTer4
ENST00000679070.1:c.*120del	ENSP00000503759.1:n.*120del
ENST00000679130.1:c.697del	ENSP00000504845.1:p.Glu233ArgfsTer4
ENST00000679315.1:c.*527del	ENSP00000503065.1:n.*527del
ENST00000243583.10:c.574del	ENSP00000243583.5:p.Glu192ArgfsTer4
ENST00000324464.7:c.697del	ENSP00000315118.3:p.Glu233ArgfsTer4
ENST00000595254.5:c.370del	ENSP00000470894.1:p.Glu124ArgfsTer4
ENST00000596455.5:n.817del
ENST00000599643.5:c.336-113del	ENSP00000471192.1:n.336-113del
ENST00000601304.5:c.*471del	ENSP00000472519.1:n.*471del
NM_001142555.2:c.574del	NP_001136027.1:p.Glu192ArgfsTer4
NM_024876.3:c.697del	NP_079152.3:p.Glu233ArgfsTer4
XM_005259270.3:c.859del	XP_005259327.2:p.Glu287ArgfsTer4
XM_005259271.3:c.697del	XP_005259328.1:p.Glu233ArgfsTer4
XM_005259272.3:c.697del	XP_005259329.1:p.Glu233ArgfsTer4
XM_005259273.3:c.697del	XP_005259330.1:p.Glu233ArgfsTer4
XM_006723392.2:c.697del	XP_006723455.1:p.Glu233ArgfsTer4
XM_006723393.2:c.697del	XP_006723456.1:p.Glu233ArgfsTer4
XM_011527334.1:c.697del	XP_011525636.1:p.Glu233ArgfsTer4
XM_011527335.1:c.577-113del	XP_011525637.1:n.577-113del
XM_011527336.1:c.727del	XP_011525638.1:p.Glu243ArgfsTer4
XM_011527337.1:c.697del	XP_011525639.1:p.Glu233ArgfsTer4
XM_011527338.1:c.697del	XP_011525640.1:p.Glu233ArgfsTer4
NM_024876.4:c.697del MANE Select	NP_079152.3:p.Glu233ArgfsTer4
NM_001142555.3:c.574del	NP_001136027.1:p.Glu192ArgfsTer4