Canonical Allele Identifier: CA6951285
Community Standard Title: NM_181503.3(EXOSC8):c.540_544del (p.Asn180LysfsTer9)
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37008109_37008113del , CM000675.2:g.37008109_37008113del GRCh38
NC_000013.10:g.37582246_37582250del , CM000675.1:g.37582246_37582250del GRCh37
NC_000013.9:g.36480246_36480250del NCBI36
NG_042275.1:g.12569_12573del

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.540_544del MANE Select NP_852480.1:p.Asn180LysfsTer9
ENST00000389704.4:c.540_544del MANE Select ENSP00000374354.3:p.Asn180LysfsTer9
NM_181503.2:c.540_544del NP_852480.1:p.Asn180LysfsTer9
ENST00000239893.9:c.*384_*388del ENSP00000239893.5:n.*384_*388del
ENST00000389704.3:c.540_544del ENSP00000374354.3:p.Asn180LysfsTer9
ENST00000464235.5:n.585_589del
ENST00000464235.6:n.2030_2034del
ENST00000474661.5:n.613_617del
ENST00000481013.1:c.94+1038_94+1042del ENSP00000419203.1:n.94+1038_94+1042del
ENST00000488779.5:n.562_566del
ENST00000488779.6:n.1966_1970del
ENST00000490537.6:n.2030_2034del
ENST00000495092.1:n.646_650del
ENST00000684866.1:n.3704_3708del
ENST00000685563.1:n.3045_3049del
ENST00000685624.1:c.-136_-132del ENSP00000510384.1:n.-136_-132del
ENST00000685643.1:n.3783_3787del
ENST00000686701.1:n.2076_2080del
ENST00000686729.1:c.540_544del ENSP00000509000.1:p.Asn180LysfsTer9
ENST00000687482.1:c.-136_-132del ENSP00000510481.1:n.-136_-132del
ENST00000687944.1:c.-136_-132del ENSP00000509727.1:n.-136_-132del
ENST00000688064.1:c.-136_-132del ENSP00000510279.1:n.-136_-132del
ENST00000688436.1:c.-136_-132del ENSP00000508444.1:n.-136_-132del
ENST00000688771.1:n.798_802del
ENST00000689744.1:c.*352_*356del ENSP00000510687.1:n.*352_*356del
ENST00000689948.1:c.-136_-132del ENSP00000509508.1:n.-136_-132del
ENST00000690673.1:n.1576_1580del
ENST00000690774.1:c.540_544del ENSP00000508609.1:p.Asn180LysfsTer9
ENST00000691611.1:c.-136_-132del ENSP00000508696.1:n.-136_-132del
ENST00000692143.1:c.-136_-132del ENSP00000510649.1:n.-136_-132del
ENST00000692477.1:n.2031_2035del
ENST00000692588.1:c.-136_-132del ENSP00000509760.1:n.-136_-132del
ENST00000692636.1:c.-136_-132del ENSP00000509306.1:n.-136_-132del
ENST00000692761.1:c.*185_*189del ENSP00000510440.1:n.*185_*189del
ENST00000692787.1:c.*1318_*1322del ENSP00000509588.1:n.*1318_*1322del
ENST00000693100.1:c.-136_-132del ENSP00000509449.1:n.-136_-132del
ENST00000693562.1:n.1260_1264del
ENST00000693733.1:n.3516_3520del
XM_006719763.1:c.651_655del XP_006719826.1:p.Asn217LysfsTer9
XR_429212.1:n.899_903del
XR_429212.2:n.899_903del
XR_941480.1:n.959_963del