Canonical Allele Identifier: CA6951094
Community Standard Title: NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37002522_37002524del , CM000675.2:g.37002522_37002524del GRCh38
NC_000013.10:g.37576659_37576661del , CM000675.1:g.37576659_37576661del GRCh37
NC_000013.9:g.36474659_36474661del NCBI36
NG_042275.1:g.6982_6984del

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.89_91del MANE Select NP_852480.1:p.Gly30del
ENST00000389704.4:c.89_91del MANE Select ENSP00000374354.3:p.Gly30del
NM_181503.2:c.89_91del NP_852480.1:p.Gly30del
ENST00000239893.9:c.52_54del ENSP00000239893.5:p.Val18del
ENST00000389704.3:c.89_91del ENSP00000374354.3:p.Gly30del
ENST00000464235.5:n.77_79del
ENST00000464235.6:n.76_78del
ENST00000470423.1:n.72_74del
ENST00000470423.2:n.129_131del
ENST00000474661.5:n.162_164del
ENST00000488108.5:n.400_402del
ENST00000488108.6:n.1743_1745del
ENST00000488779.5:n.77_79del
ENST00000488779.6:n.1557_1559del
ENST00000489088.5:n.451_453del
ENST00000490537.6:n.108_110del
ENST00000684866.1:n.1745_1747del
ENST00000685563.1:n.1086_1088del
ENST00000685624.1:c.-587_-585del ENSP00000510384.1:n.-587_-585del
ENST00000685643.1:n.1735_1737del
ENST00000686472.1:n.72_74del
ENST00000686701.1:n.117_119del
ENST00000686729.1:c.89_91del ENSP00000509000.1:p.Gly30del
ENST00000687482.1:c.-626_-624del ENSP00000510481.1:n.-626_-624del
ENST00000687944.1:c.-536_-534del ENSP00000509727.1:n.-536_-534del
ENST00000688064.1:c.-545_-543del ENSP00000510279.1:n.-545_-543del
ENST00000688436.1:c.-587_-585del ENSP00000508444.1:n.-587_-585del
ENST00000689744.1:c.52_54del ENSP00000510687.1:p.Val18del
ENST00000689948.1:c.-582_-580del ENSP00000509508.1:n.-582_-580del
ENST00000690673.1:n.1086_1088del
ENST00000690774.1:c.89_91del ENSP00000508609.1:p.Gly30del
ENST00000691611.1:c.-504_-502del ENSP00000508696.1:n.-504_-502del
ENST00000692143.1:c.-587_-585del ENSP00000510649.1:n.-587_-585del
ENST00000692477.1:n.109_111del
ENST00000692588.1:c.-545_-543del ENSP00000509760.1:n.-545_-543del
ENST00000692636.1:c.-610_-608del ENSP00000509306.1:n.-610_-608del
ENST00000692761.1:c.89_91del ENSP00000510440.1:p.Gly30del
ENST00000692787.1:c.89_91del ENSP00000509588.1:p.Gly30del
ENST00000693100.1:c.-587_-585del ENSP00000509449.1:n.-587_-585del
ENST00000693733.1:n.1557_1559del
XM_006719763.1:c.200_202del XP_006719826.1:p.Gly67del
XR_429212.1:n.485_487del
XR_429212.2:n.485_487del
XR_941480.1:n.485_487del