Canonical Allele Identifier: CA6951087
Community Standard Title: NM_181503.3(EXOSC8):c.55-10_55-9del
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37002478_37002479del , CM000675.2:g.37002478_37002479del GRCh38
NC_000013.10:g.37576615_37576616del , CM000675.1:g.37576615_37576616del GRCh37
NC_000013.9:g.36474615_36474616del NCBI36
NG_042275.1:g.6938_6939del

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.55-10_55-9del MANE Select NP_852480.1:n.55-10_55-9del
ENST00000389704.4:c.55-10_55-9del MANE Select ENSP00000374354.3:n.55-10_55-9del
NM_181503.2:c.55-10_55-9del NP_852480.1:n.55-10_55-9del
ENST00000239893.9:c.18-10_18-9del ENSP00000239893.5:n.18-10_18-9del
ENST00000389704.3:c.55-10_55-9del ENSP00000374354.3:n.55-10_55-9del
ENST00000464235.5:n.43-10_43-9del
ENST00000464235.6:n.42-10_42-9del
ENST00000470423.1:n.38-10_38-9del
ENST00000470423.2:n.95-10_95-9del
ENST00000474661.5:n.128-10_128-9del
ENST00000488108.5:n.366-10_366-9del
ENST00000488108.6:n.1699_1700del
ENST00000488779.5:n.43-10_43-9del
ENST00000488779.6:n.1523-10_1523-9del
ENST00000489088.5:n.417-10_417-9del
ENST00000490537.6:n.74-10_74-9del
ENST00000684866.1:n.1701_1702del
ENST00000685563.1:n.1052-10_1052-9del
ENST00000685624.1:c.-621-10_-621-9del ENSP00000510384.1:n.-621-10_-621-9del
ENST00000685643.1:n.1691_1692del
ENST00000686472.1:n.38-10_38-9del
ENST00000686701.1:n.83-10_83-9del
ENST00000686729.1:c.55-10_55-9del ENSP00000509000.1:n.55-10_55-9del
ENST00000687482.1:c.-660-10_-660-9del ENSP00000510481.1:n.-660-10_-660-9del
ENST00000687944.1:c.-570-10_-570-9del ENSP00000509727.1:n.-570-10_-570-9del
ENST00000688064.1:c.-579-10_-579-9del ENSP00000510279.1:n.-579-10_-579-9del
ENST00000688436.1:c.-621-10_-621-9del ENSP00000508444.1:n.-621-10_-621-9del
ENST00000689744.1:c.18-10_18-9del ENSP00000510687.1:n.18-10_18-9del
ENST00000689948.1:c.-616-10_-616-9del ENSP00000509508.1:n.-616-10_-616-9del
ENST00000690673.1:n.1052-10_1052-9del
ENST00000690774.1:c.55-10_55-9del ENSP00000508609.1:n.55-10_55-9del
ENST00000691611.1:c.-538-10_-538-9del ENSP00000508696.1:n.-538-10_-538-9del
ENST00000692143.1:c.-621-10_-621-9del ENSP00000510649.1:n.-621-10_-621-9del
ENST00000692477.1:n.75-10_75-9del
ENST00000692588.1:c.-579-10_-579-9del ENSP00000509760.1:n.-579-10_-579-9del
ENST00000692636.1:c.-644-10_-644-9del ENSP00000509306.1:n.-644-10_-644-9del
ENST00000692761.1:c.55-10_55-9del ENSP00000510440.1:n.55-10_55-9del
ENST00000692787.1:c.55-10_55-9del ENSP00000509588.1:n.55-10_55-9del
ENST00000693100.1:c.-621-10_-621-9del ENSP00000509449.1:n.-621-10_-621-9del
ENST00000693733.1:n.1523-10_1523-9del
XM_006719763.1:c.166-10_166-9del XP_006719826.1:n.166-10_166-9del
XR_429212.1:n.451-10_451-9del
XR_429212.2:n.451-10_451-9del
XR_941480.1:n.451-10_451-9del