Canonical Allele Identifier: CA2585172135
Gene: COQ8B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40692061del , CM000681.2:g.40692061del GRCh38
NC_000019.9:g.41197966del , CM000681.1:g.41197966del GRCh37
NC_000019.8:g.45889806del NCBI36
NG_027800.1:g.29828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.1612del MANE Select ENSP00000315118.3:p.Asp538ThrfsTer?
ENST00000593724.2:n.3435del
ENST00000594490.6:c.1534del ENSP00000471310.2:p.Asp512ThrfsTer?
ENST00000594720.6:c.1612del ENSP00000470876.2:p.Asp538ThrfsTer?
ENST00000596455.6:n.1904del
ENST00000601967.6:c.1612del ENSP00000470916.2:p.Asp538ThrfsTer?
ENST00000676555.1:c.*1037del ENSP00000503387.1:n.*1037del
ENST00000676578.1:c.*1354del ENSP00000504076.1:n.*1354del
ENST00000676960.1:n.1737del
ENST00000676962.1:n.1891del
ENST00000677018.1:c.1612del ENSP00000503480.1:p.Asp538ThrfsTer?
ENST00000677039.1:n.3815del
ENST00000677399.1:n.2054del
ENST00000677496.1:c.1285del ENSP00000504773.1:p.Asp429ThrfsTer?
ENST00000677517.1:c.1285del ENSP00000503519.1:p.Asp429ThrfsTer?
ENST00000677633.1:c.*1035del ENSP00000503645.1:n.*1035del
ENST00000677800.1:c.*4716del ENSP00000503794.1:n.*4716del
ENST00000678057.1:c.*1176del ENSP00000503762.1:n.*1176del
ENST00000678119.1:n.1806del
ENST00000678166.1:n.1755del
ENST00000678312.1:n.1949del
ENST00000678316.1:c.*1035del ENSP00000504112.1:n.*1035del
ENST00000678371.1:n.2062del
ENST00000678404.1:c.1612del ENSP00000503944.1:p.Asp538ThrfsTer?
ENST00000678419.1:c.1612del ENSP00000504085.1:p.Asp538ThrfsTer?
ENST00000678433.1:n.1968del
ENST00000678467.1:c.1612del ENSP00000504072.1:p.Asp538ThrfsTer?
ENST00000678569.1:c.*597del ENSP00000504261.1:n.*597del
ENST00000678961.1:n.1967del
ENST00000679002.1:n.1791del
ENST00000679012.1:c.1168del ENSP00000504446.1:p.Asp390ThrfsTer?
ENST00000679070.1:c.*1031del ENSP00000503759.1:n.*1031del
ENST00000679130.1:c.1612del ENSP00000504845.1:p.Asp538ThrfsTer?
ENST00000679315.1:c.*1442del ENSP00000503065.1:n.*1442del
ENST00000243583.10:c.1489del ENSP00000243583.5:p.Asp497ThrfsTer?
ENST00000324464.7:c.1612del ENSP00000315118.3:p.Asp538ThrfsTer?
ENST00000593724.1:n.1727del
NM_001142555.2:c.1489del NP_001136027.1:p.Asp497ThrfsTer?
NM_024876.3:c.1612del NP_079152.3:p.Asp538ThrfsTer?
XM_005259270.3:c.1774del XP_005259327.2:p.Asp592ThrfsTer?
XM_005259271.3:c.1612del XP_005259328.1:p.Asp538ThrfsTer?
XM_005259272.3:c.1612del XP_005259329.1:p.Asp538ThrfsTer?
XM_005259273.3:c.1612del XP_005259330.1:p.Asp538ThrfsTer?
XM_006723392.2:c.1612del XP_006723455.1:p.Asp538ThrfsTer?
XM_006723393.2:c.1612del XP_006723456.1:p.Asp538ThrfsTer?
XM_011527334.1:c.1612del XP_011525636.1:p.Asp538ThrfsTer?
XM_011527335.1:c.1471del XP_011525637.1:p.Asp491ThrfsTer?
XM_011527336.1:c.1642del XP_011525638.1:p.Asp548ThrfsTer?
XM_011527337.1:c.1612del XP_011525639.1:p.Asp538ThrfsTer?
XM_011527338.1:c.1612del XP_011525640.1:p.Asp538ThrfsTer?
NM_024876.4:c.1612del MANE Select NP_079152.3:p.Asp538ThrfsTer?
NM_001142555.3:c.1489del NP_001136027.1:p.Asp497ThrfsTer?