Canonical Allele Identifier: CA2176424862
Gene: USP8 HGNC NCBI

Linked Data

dbSNP Id: rs2052111826

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490314dup , CM000677.2:g.50490314dup GRCh38
NC_000015.9:g.50782511dup , CM000677.1:g.50782511dup GRCh37
NC_000015.8:g.48569803dup NCBI36
NG_047101.1:g.70938dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2023dup MANE Select ENSP00000302239.4:p.Thr675AsnfsTer23
ENST00000307179.8:c.2023dup ENSP00000302239.4:p.Thr675AsnfsTer23
ENST00000396444.7:c.2023dup ENSP00000379721.3:p.Thr675AsnfsTer23
ENST00000425032.7:c.1705dup ENSP00000412682.3:p.Thr569AsnfsTer23
ENST00000561206.1:n.440dup
NM_001128610.2:c.2023dup NP_001122082.1:p.Thr675AsnfsTer23
NM_001283049.1:c.1705dup NP_001269978.1:p.Thr569AsnfsTer23
NM_005154.4:c.2023dup NP_005145.3:p.Thr675AsnfsTer23
XM_006720761.2:c.2023dup XP_006720824.1:p.Thr675AsnfsTer23
XM_006720762.2:c.1936dup XP_006720825.1:p.Thr646AsnfsTer23
XM_011522193.1:c.2023dup XP_011520495.1:p.Thr675AsnfsTer23
XM_011522194.1:c.1351dup XP_011520496.1:p.Thr451AsnfsTer23
XM_006720761.3:c.2023dup XP_006720824.1:p.Thr675AsnfsTer23
XM_006720762.3:c.1936dup XP_006720825.1:p.Thr646AsnfsTer23
XM_011522193.3:c.2023dup XP_011520495.1:p.Thr675AsnfsTer23
XM_017022718.1:c.1936dup XP_016878207.1:p.Thr646AsnfsTer23
XM_017022719.2:c.1936dup XP_016878208.1:p.Thr646AsnfsTer23
XM_017022720.2:c.1936dup XP_016878209.1:p.Thr646AsnfsTer23
XM_017022721.2:c.1453dup XP_016878210.1:p.Thr485AsnfsTer23
XM_017022722.1:c.1453dup XP_016878211.1:p.Thr485AsnfsTer23
XM_024450098.1:c.1453dup XP_024305866.1:p.Thr485AsnfsTer23
NM_005154.5:c.2023dup MANE Select NP_005145.3:p.Thr675AsnfsTer23
NM_001128610.3:c.2023dup NP_001122082.1:p.Thr675AsnfsTer23
NM_001283049.2:c.1705dup NP_001269978.1:p.Thr569AsnfsTer23