Canonical Allele Identifier: CA2585172148
Gene: COQ8B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40692320_40692329del , CM000681.2:g.40692320_40692329del GRCh38
NC_000019.9:g.41198225_41198234del , CM000681.1:g.41198225_41198234del GRCh37
NC_000019.8:g.45890065_45890074del NCBI36
NG_027800.1:g.29557_29566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000324464.8:c.1341_1350del MANE Select ENSP00000315118.3:p.Phe449ArgfsTer?
ENST00000593724.2:n.3164_3173del
ENST00000594490.6:c.1263_1272del ENSP00000471310.2:p.Phe423ArgfsTer?
ENST00000594720.6:c.1341_1350del ENSP00000470876.2:p.Phe449ArgfsTer?
ENST00000596455.6:n.1633_1642del
ENST00000601967.6:c.1341_1350del ENSP00000470916.2:p.Phe449ArgfsTer?
ENST00000676555.1:c.*766_*775del ENSP00000503387.1:n.*766_*775del
ENST00000676578.1:c.*1083_*1092del ENSP00000504076.1:n.*1083_*1092del
ENST00000676960.1:n.1466_1475del
ENST00000676962.1:n.1620_1629del
ENST00000677018.1:c.1341_1350del ENSP00000503480.1:p.Phe449ArgfsTer?
ENST00000677039.1:n.3544_3553del
ENST00000677399.1:n.1783_1792del
ENST00000677496.1:c.1014_1023del ENSP00000504773.1:p.Phe340ArgfsTer?
ENST00000677517.1:c.1014_1023del ENSP00000503519.1:p.Phe340ArgfsTer?
ENST00000677633.1:c.*764_*773del ENSP00000503645.1:n.*764_*773del
ENST00000677800.1:c.*4445_*4454del ENSP00000503794.1:n.*4445_*4454del
ENST00000678057.1:c.*905_*914del ENSP00000503762.1:n.*905_*914del
ENST00000678119.1:n.1535_1544del
ENST00000678166.1:n.1484_1493del
ENST00000678312.1:n.1678_1687del
ENST00000678316.1:c.*764_*773del ENSP00000504112.1:n.*764_*773del
ENST00000678371.1:n.1791_1800del
ENST00000678404.1:c.1341_1350del ENSP00000503944.1:p.Phe449ArgfsTer?
ENST00000678419.1:c.1341_1350del ENSP00000504085.1:p.Phe449ArgfsTer?
ENST00000678433.1:n.1697_1706del
ENST00000678467.1:c.1341_1350del ENSP00000504072.1:p.Phe449ArgfsTer?
ENST00000678569.1:c.*326_*335del ENSP00000504261.1:n.*326_*335del
ENST00000678961.1:n.1696_1705del
ENST00000679002.1:n.1520_1529del
ENST00000679012.1:c.897_906del ENSP00000504446.1:p.Phe301ArgfsTer?
ENST00000679070.1:c.*760_*769del ENSP00000503759.1:n.*760_*769del
ENST00000679130.1:c.1341_1350del ENSP00000504845.1:p.Phe449ArgfsTer?
ENST00000679315.1:c.*1171_*1180del ENSP00000503065.1:n.*1171_*1180del
ENST00000243583.10:c.1218_1227del ENSP00000243583.5:p.Phe408ArgfsTer?
ENST00000324464.7:c.1341_1350del ENSP00000315118.3:p.Phe449ArgfsTer?
ENST00000593724.1:n.1456_1465del
NM_001142555.2:c.1218_1227del NP_001136027.1:p.Phe408ArgfsTer?
NM_024876.3:c.1341_1350del NP_079152.3:p.Phe449ArgfsTer?
XM_005259270.3:c.1503_1512del XP_005259327.2:p.Phe503ArgfsTer?
XM_005259271.3:c.1341_1350del XP_005259328.1:p.Phe449ArgfsTer?
XM_005259272.3:c.1341_1350del XP_005259329.1:p.Phe449ArgfsTer?
XM_005259273.3:c.1341_1350del XP_005259330.1:p.Phe449ArgfsTer?
XM_006723392.2:c.1341_1350del XP_006723455.1:p.Phe449ArgfsTer?
XM_006723393.2:c.1341_1350del XP_006723456.1:p.Phe449ArgfsTer?
XM_011527334.1:c.1341_1350del XP_011525636.1:p.Phe449ArgfsTer?
XM_011527335.1:c.1200_1209del XP_011525637.1:p.Phe402ArgfsTer?
XM_011527336.1:c.1371_1380del XP_011525638.1:p.Phe459ArgfsTer?
XM_011527337.1:c.1341_1350del XP_011525639.1:p.Phe449ArgfsTer?
XM_011527338.1:c.1341_1350del XP_011525640.1:p.Phe449ArgfsTer?
NM_024876.4:c.1341_1350del MANE Select NP_079152.3:p.Phe449ArgfsTer?
NM_001142555.3:c.1218_1227del NP_001136027.1:p.Phe408ArgfsTer?