Canonical Allele Identifier: CA2176424928
Gene: USP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490470_50490481delinsCAAGAGGAAGAG , CM000677.2:g.50490470_50490481delinsCAAGAGGAAGAG GRCh38
NC_000015.9:g.50782667_50782678delinsCAAGAGGAAGAG , CM000677.1:g.50782667_50782678delinsCAAGAGGAAGAG GRCh37
NC_000015.8:g.48569959_48569970delinsCAAGAGGAAGAG NCBI36
NG_047101.1:g.71094_71105delinsCAAGAGGAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2179_2190delinsCAAGAGGAAGAG MANE Select ENSP00000302239.4:p.Gln727=
ENST00000307179.8:c.2179_2190delinsCAAGAGGAAGAG ENSP00000302239.4:p.Gln727=
ENST00000396444.7:c.2179_2190delinsCAAGAGGAAGAG ENSP00000379721.3:p.Gln727=
ENST00000425032.7:c.1861_1872delinsCAAGAGGAAGAG ENSP00000412682.3:p.Gln621=
NM_001128610.2:c.2179_2190delinsCAAGAGGAAGAG NP_001122082.1:p.Gln727=
NM_001283049.1:c.1861_1872delinsCAAGAGGAAGAG NP_001269978.1:p.Gln621=
NM_005154.4:c.2179_2190delinsCAAGAGGAAGAG NP_005145.3:p.Gln727=
XM_006720761.2:c.2179_2190delinsCAAGAGGAAGAG XP_006720824.1:p.Gln727=
XM_006720762.2:c.2092_2103delinsCAAGAGGAAGAG XP_006720825.1:p.Gln698=
XM_011522193.1:c.2179_2190delinsCAAGAGGAAGAG XP_011520495.1:p.Gln727=
XM_011522194.1:c.1507_1518delinsCAAGAGGAAGAG XP_011520496.1:p.Gln503=
XM_006720761.3:c.2179_2190delinsCAAGAGGAAGAG XP_006720824.1:p.Gln727=
XM_006720762.3:c.2092_2103delinsCAAGAGGAAGAG XP_006720825.1:p.Gln698=
XM_011522193.3:c.2179_2190delinsCAAGAGGAAGAG XP_011520495.1:p.Gln727=
XM_017022718.1:c.2092_2103delinsCAAGAGGAAGAG XP_016878207.1:p.Gln698=
XM_017022719.2:c.2092_2103delinsCAAGAGGAAGAG XP_016878208.1:p.Gln698=
XM_017022720.2:c.2092_2103delinsCAAGAGGAAGAG XP_016878209.1:p.Gln698=
XM_017022721.2:c.1609_1620delinsCAAGAGGAAGAG XP_016878210.1:p.Gln537=
XM_017022722.1:c.1609_1620delinsCAAGAGGAAGAG XP_016878211.1:p.Gln537=
XM_024450098.1:c.1609_1620delinsCAAGAGGAAGAG XP_024305866.1:p.Gln537=
NM_005154.5:c.2179_2190delinsCAAGAGGAAGAG MANE Select NP_005145.3:p.Gln727=
NM_001128610.3:c.2179_2190delinsCAAGAGGAAGAG NP_001122082.1:p.Gln727=
NM_001283049.2:c.1861_1872delinsCAAGAGGAAGAG NP_001269978.1:p.Gln621=