Canonical Allele Identifier: CA2526945658

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692071-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692072del , CM000681.2:g.40692072del	GRCh38
NC_000019.9:g.41197977del , CM000681.1:g.41197977del	GRCh37
NC_000019.8:g.45889817del	NCBI36
NG_027800.1:g.29814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1598del MANE Select	ENSP00000315118.3:p.Leu533ProfsTer?
ENST00000593724.2:n.3421del
ENST00000594490.6:c.1520del	ENSP00000471310.2:p.Leu507ProfsTer?
ENST00000594720.6:c.1598del	ENSP00000470876.2:p.Leu533ProfsTer?
ENST00000596455.6:n.1890del
ENST00000601967.6:c.1598del	ENSP00000470916.2:p.Leu533ProfsTer?
ENST00000676555.1:c.*1023del	ENSP00000503387.1:n.*1023del
ENST00000676578.1:c.*1340del	ENSP00000504076.1:n.*1340del
ENST00000676960.1:n.1723del
ENST00000676962.1:n.1877del
ENST00000677018.1:c.1598del	ENSP00000503480.1:p.Leu533ProfsTer?
ENST00000677039.1:n.3801del
ENST00000677399.1:n.2040del
ENST00000677496.1:c.1271del	ENSP00000504773.1:p.Leu424ProfsTer?
ENST00000677517.1:c.1271del	ENSP00000503519.1:p.Leu424ProfsTer?
ENST00000677633.1:c.*1021del	ENSP00000503645.1:n.*1021del
ENST00000677800.1:c.*4702del	ENSP00000503794.1:n.*4702del
ENST00000678057.1:c.*1162del	ENSP00000503762.1:n.*1162del
ENST00000678119.1:n.1792del
ENST00000678166.1:n.1741del
ENST00000678312.1:n.1935del
ENST00000678316.1:c.*1021del	ENSP00000504112.1:n.*1021del
ENST00000678371.1:n.2048del
ENST00000678404.1:c.1598del	ENSP00000503944.1:p.Leu533ProfsTer?
ENST00000678419.1:c.1598del	ENSP00000504085.1:p.Leu533ProfsTer?
ENST00000678433.1:n.1954del
ENST00000678467.1:c.1598del	ENSP00000504072.1:p.Leu533ProfsTer?
ENST00000678569.1:c.*583del	ENSP00000504261.1:n.*583del
ENST00000678961.1:n.1953del
ENST00000679002.1:n.1777del
ENST00000679012.1:c.1154del	ENSP00000504446.1:p.Leu385ProfsTer?
ENST00000679070.1:c.*1017del	ENSP00000503759.1:n.*1017del
ENST00000679130.1:c.1598del	ENSP00000504845.1:p.Leu533ProfsTer?
ENST00000679315.1:c.*1428del	ENSP00000503065.1:n.*1428del
ENST00000243583.10:c.1475del	ENSP00000243583.5:p.Leu492ProfsTer?
ENST00000324464.7:c.1598del	ENSP00000315118.3:p.Leu533ProfsTer?
ENST00000593724.1:n.1713del
NM_001142555.2:c.1475del	NP_001136027.1:p.Leu492ProfsTer?
NM_024876.3:c.1598del	NP_079152.3:p.Leu533ProfsTer?
XM_005259270.3:c.1760del	XP_005259327.2:p.Leu587ProfsTer?
XM_005259271.3:c.1598del	XP_005259328.1:p.Leu533ProfsTer?
XM_005259272.3:c.1598del	XP_005259329.1:p.Leu533ProfsTer?
XM_005259273.3:c.1598del	XP_005259330.1:p.Leu533ProfsTer?
XM_006723392.2:c.1598del	XP_006723455.1:p.Leu533ProfsTer?
XM_006723393.2:c.1598del	XP_006723456.1:p.Leu533ProfsTer?
XM_011527334.1:c.1598del	XP_011525636.1:p.Leu533ProfsTer?
XM_011527335.1:c.1457del	XP_011525637.1:p.Leu486ProfsTer?
XM_011527336.1:c.1628del	XP_011525638.1:p.Leu543ProfsTer?
XM_011527337.1:c.1598del	XP_011525639.1:p.Leu533ProfsTer?
XM_011527338.1:c.1598del	XP_011525640.1:p.Leu533ProfsTer?
NM_024876.4:c.1598del MANE Select	NP_079152.3:p.Leu533ProfsTer?
NM_001142555.3:c.1475del	NP_001136027.1:p.Leu492ProfsTer?