Canonical Allele Identifier: CA2585172151
Gene: COQ8B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40692336_40692337insAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCA , CM000681.2:g.40692336_40692337insAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCA GRCh38
NC_000019.9:g.41198241_41198242insAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCA , CM000681.1:g.41198241_41198242insAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCA GRCh37
NC_000019.8:g.45890081_45890082insAAGGCAGCTGTTGGAGGAGCGAGGGAGGCAGAGGTGAGGACTGCCTCCA NCBI36
NG_027800.1:g.29552_29553insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG MANE Select ENSP00000315118.3:p.Gly446GlufsTer27
ENST00000593724.2:n.3159_3160insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000594490.6:c.1258_1259insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000471310.2:p.Gly420GlufsTer27
ENST00000594720.6:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000470876.2:p.Gly446GlufsTer27
ENST00000596455.6:n.1628_1629insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000601967.6:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000470916.2:p.Gly446GlufsTer27
ENST00000676555.1:c.*761_*762insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503387.1:n.*761_*762insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000676578.1:c.*1078_*1079insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504076.1:n.*1078_*1079insAGGCAGTCCTCACCTCTGCCTCCCTCG...
ENST00000676960.1:n.1461_1462insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000676962.1:n.1615_1616insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000677018.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503480.1:p.Gly446GlufsTer27
ENST00000677039.1:n.3539_3540insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000677399.1:n.1778_1779insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000677496.1:c.1009_1010insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504773.1:p.Gly337GlufsTer27
ENST00000677517.1:c.1009_1010insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503519.1:p.Gly337GlufsTer27
ENST00000677633.1:c.*759_*760insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503645.1:n.*759_*760insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000677800.1:c.*4440_*4441insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503794.1:n.*4440_*4441insAGGCAGTCCTCACCTCTGCCTCCCTCG...
ENST00000678057.1:c.*900_*901insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503762.1:n.*900_*901insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000678119.1:n.1530_1531insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000678166.1:n.1479_1480insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000678312.1:n.1673_1674insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000678316.1:c.*759_*760insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504112.1:n.*759_*760insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000678371.1:n.1786_1787insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000678404.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503944.1:p.Gly446GlufsTer27
ENST00000678419.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504085.1:p.Gly446GlufsTer27
ENST00000678433.1:n.1692_1693insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000678467.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504072.1:p.Gly446GlufsTer27
ENST00000678569.1:c.*321_*322insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504261.1:n.*321_*322insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000678961.1:n.1691_1692insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000679002.1:n.1515_1516insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
ENST00000679012.1:c.892_893insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504446.1:p.Gly298GlufsTer27
ENST00000679070.1:c.*755_*756insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503759.1:n.*755_*756insAGGCAGTCCTCACCTCTGCCTCCCTCGCT...
ENST00000679130.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000504845.1:p.Gly446GlufsTer27
ENST00000679315.1:c.*1166_*1167insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000503065.1:n.*1166_*1167insAGGCAGTCCTCACCTCTGCCTCCCTCG...
ENST00000243583.10:c.1213_1214insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000243583.5:p.Gly405GlufsTer27
ENST00000324464.7:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG ENSP00000315118.3:p.Gly446GlufsTer27
ENST00000593724.1:n.1451_1452insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG
NM_001142555.2:c.1213_1214insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG NP_001136027.1:p.Gly405GlufsTer27
NM_024876.3:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG NP_079152.3:p.Gly446GlufsTer27
XM_005259270.3:c.1498_1499insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_005259327.2:p.Gly500GlufsTer27
XM_005259271.3:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_005259328.1:p.Gly446GlufsTer27
XM_005259272.3:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_005259329.1:p.Gly446GlufsTer27
XM_005259273.3:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_005259330.1:p.Gly446GlufsTer27
XM_006723392.2:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_006723455.1:p.Gly446GlufsTer27
XM_006723393.2:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_006723456.1:p.Gly446GlufsTer27
XM_011527334.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_011525636.1:p.Gly446GlufsTer27
XM_011527335.1:c.1195_1196insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_011525637.1:p.Gly399GlufsTer27
XM_011527336.1:c.1366_1367insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_011525638.1:p.Gly456GlufsTer27
XM_011527337.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_011525639.1:p.Gly446GlufsTer27
XM_011527338.1:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG XP_011525640.1:p.Gly446GlufsTer27
NM_024876.4:c.1336_1337insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG MANE Select NP_079152.3:p.Gly446GlufsTer27
NM_001142555.3:c.1213_1214insAGGCAGTCCTCACCTCTGCCTCCCTCGCTCCTCCAACAGCTGCCTTTGG NP_001136027.1:p.Gly405GlufsTer27