Canonical Allele Identifier: CA2585172145

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692250-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692251_40692252del , CM000681.2:g.40692251_40692252del	GRCh38
NC_000019.9:g.41198156_41198157del , CM000681.1:g.41198156_41198157del	GRCh37
NC_000019.8:g.45889996_45889997del	NCBI36
NG_027800.1:g.29634_29635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1418_1419del MANE Select	ENSP00000315118.3:p.Leu473ProfsTer?
ENST00000593724.2:n.3241_3242del
ENST00000594490.6:c.1340_1341del	ENSP00000471310.2:p.Leu447ProfsTer?
ENST00000594720.6:c.1418_1419del	ENSP00000470876.2:p.Leu473ProfsTer?
ENST00000596455.6:n.1710_1711del
ENST00000601967.6:c.1418_1419del	ENSP00000470916.2:p.Leu473ProfsTer?
ENST00000676555.1:c.*843_*844del	ENSP00000503387.1:n.*843_*844del
ENST00000676578.1:c.*1160_*1161del	ENSP00000504076.1:n.*1160_*1161del
ENST00000676960.1:n.1543_1544del
ENST00000676962.1:n.1697_1698del
ENST00000677018.1:c.1418_1419del	ENSP00000503480.1:p.Leu473ProfsTer?
ENST00000677039.1:n.3621_3622del
ENST00000677399.1:n.1860_1861del
ENST00000677496.1:c.1091_1092del	ENSP00000504773.1:p.Leu364ProfsTer?
ENST00000677517.1:c.1091_1092del	ENSP00000503519.1:p.Leu364ProfsTer?
ENST00000677633.1:c.*841_*842del	ENSP00000503645.1:n.*841_*842del
ENST00000677800.1:c.*4522_*4523del	ENSP00000503794.1:n.*4522_*4523del
ENST00000678057.1:c.*982_*983del	ENSP00000503762.1:n.*982_*983del
ENST00000678119.1:n.1612_1613del
ENST00000678166.1:n.1561_1562del
ENST00000678312.1:n.1755_1756del
ENST00000678316.1:c.*841_*842del	ENSP00000504112.1:n.*841_*842del
ENST00000678371.1:n.1868_1869del
ENST00000678404.1:c.1418_1419del	ENSP00000503944.1:p.Leu473ProfsTer?
ENST00000678419.1:c.1418_1419del	ENSP00000504085.1:p.Leu473ProfsTer?
ENST00000678433.1:n.1774_1775del
ENST00000678467.1:c.1418_1419del	ENSP00000504072.1:p.Leu473ProfsTer?
ENST00000678569.1:c.*403_*404del	ENSP00000504261.1:n.*403_*404del
ENST00000678961.1:n.1773_1774del
ENST00000679002.1:n.1597_1598del
ENST00000679012.1:c.974_975del	ENSP00000504446.1:p.Leu325ProfsTer?
ENST00000679070.1:c.*837_*838del	ENSP00000503759.1:n.*837_*838del
ENST00000679130.1:c.1418_1419del	ENSP00000504845.1:p.Leu473ProfsTer?
ENST00000679315.1:c.*1248_*1249del	ENSP00000503065.1:n.*1248_*1249del
ENST00000243583.10:c.1295_1296del	ENSP00000243583.5:p.Leu432ProfsTer?
ENST00000324464.7:c.1418_1419del	ENSP00000315118.3:p.Leu473ProfsTer?
ENST00000593724.1:n.1533_1534del
NM_001142555.2:c.1295_1296del	NP_001136027.1:p.Leu432ProfsTer?
NM_024876.3:c.1418_1419del	NP_079152.3:p.Leu473ProfsTer?
XM_005259270.3:c.1580_1581del	XP_005259327.2:p.Leu527ProfsTer?
XM_005259271.3:c.1418_1419del	XP_005259328.1:p.Leu473ProfsTer?
XM_005259272.3:c.1418_1419del	XP_005259329.1:p.Leu473ProfsTer?
XM_005259273.3:c.1418_1419del	XP_005259330.1:p.Leu473ProfsTer?
XM_006723392.2:c.1418_1419del	XP_006723455.1:p.Leu473ProfsTer?
XM_006723393.2:c.1418_1419del	XP_006723456.1:p.Leu473ProfsTer?
XM_011527334.1:c.1418_1419del	XP_011525636.1:p.Leu473ProfsTer?
XM_011527335.1:c.1277_1278del	XP_011525637.1:p.Leu426ProfsTer?
XM_011527336.1:c.1448_1449del	XP_011525638.1:p.Leu483ProfsTer?
XM_011527337.1:c.1418_1419del	XP_011525639.1:p.Leu473ProfsTer?
XM_011527338.1:c.1418_1419del	XP_011525640.1:p.Leu473ProfsTer?
NM_024876.4:c.1418_1419del MANE Select	NP_079152.3:p.Leu473ProfsTer?
NM_001142555.3:c.1295_1296del	NP_001136027.1:p.Leu432ProfsTer?