Canonical Allele Identifier: CA6951348
Community Standard Title: NM_181503.3(EXOSC8):c.734dup (p.Ala246SerfsTer2)
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37009202dup , CM000675.2:g.37009202dup GRCh38
NC_000013.10:g.37583339dup , CM000675.1:g.37583339dup GRCh37
NC_000013.9:g.36481339dup NCBI36
NG_042275.1:g.13662dup

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.734dup MANE Select NP_852480.1:p.Ala246SerfsTer2
ENST00000389704.4:c.734dup MANE Select ENSP00000374354.3:p.Ala246SerfsTer2
NM_181503.2:c.734dup NP_852480.1:p.Ala246SerfsTer2
ENST00000389704.3:c.734dup ENSP00000374354.3:p.Ala246SerfsTer2
ENST00000464235.6:n.2224dup
ENST00000481013.1:c.113dup ENSP00000419203.1:p.Ala39SerfsTer2
ENST00000488779.6:n.2160dup
ENST00000490537.6:n.2224dup
ENST00000684866.1:n.3898dup
ENST00000685563.1:n.3239dup
ENST00000685624.1:c.59dup ENSP00000510384.1:p.Ala21SerfsTer2
ENST00000685643.1:n.3977dup
ENST00000686701.1:n.2618dup
ENST00000686729.1:c.*341dup ENSP00000509000.1:n.*341dup
ENST00000687482.1:c.59dup ENSP00000510481.1:p.Ala21SerfsTer2
ENST00000687944.1:c.59dup ENSP00000509727.1:p.Ala21SerfsTer2
ENST00000688064.1:c.59dup ENSP00000510279.1:p.Ala21SerfsTer2
ENST00000688436.1:c.59dup ENSP00000508444.1:p.Ala21SerfsTer2
ENST00000688771.1:n.992dup
ENST00000689744.1:c.*546dup ENSP00000510687.1:n.*546dup
ENST00000689948.1:c.59dup ENSP00000509508.1:p.Ala21SerfsTer2
ENST00000690673.1:n.2118dup
ENST00000690774.1:c.715+367dup ENSP00000508609.1:n.715+367dup
ENST00000691611.1:c.59dup ENSP00000508696.1:p.Ala21SerfsTer2
ENST00000692143.1:c.59dup ENSP00000510649.1:p.Ala21SerfsTer2
ENST00000692477.1:n.2573dup
ENST00000692588.1:c.59dup ENSP00000509760.1:p.Ala21SerfsTer2
ENST00000692636.1:c.59dup ENSP00000509306.1:p.Ala21SerfsTer2
ENST00000692761.1:c.*360+367dup ENSP00000510440.1:n.*360+367dup
ENST00000692787.1:c.*1512dup ENSP00000509588.1:n.*1512dup
ENST00000693100.1:c.59dup ENSP00000509449.1:p.Ala21SerfsTer2
ENST00000693562.1:n.1802dup
ENST00000693733.1:n.3710dup
XM_006719763.1:c.845dup XP_006719826.1:p.Ala283SerfsTer2
XR_429212.1:n.1093dup
XR_429212.2:n.1093dup
XR_941480.1:n.1153dup