Canonical Allele Identifier: CA2730875056
Gene: USP8 HGNC NCBI

Linked Data

dbSNP Id: rs2141317474

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50490346_50490347insGATTGGG , CM000677.2:g.50490346_50490347insGATTGGG GRCh38
NC_000015.9:g.50782543_50782544insGATTGGG , CM000677.1:g.50782543_50782544insGATTGGG GRCh37
NC_000015.8:g.48569835_48569836insGATTGGG NCBI36
NG_047101.1:g.70970_70971insGATTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000307179.9:c.2055_2056insGATTGGG MANE Select ENSP00000302239.4:p.Ser686AspfsTer14
ENST00000307179.8:c.2055_2056insGATTGGG ENSP00000302239.4:p.Ser686AspfsTer14
ENST00000396444.7:c.2055_2056insGATTGGG ENSP00000379721.3:p.Ser686AspfsTer14
ENST00000425032.7:c.1737_1738insGATTGGG ENSP00000412682.3:p.Ser580AspfsTer14
ENST00000561206.1:n.472_473insGATTGGG
NM_001128610.2:c.2055_2056insGATTGGG NP_001122082.1:p.Ser686AspfsTer14
NM_001283049.1:c.1737_1738insGATTGGG NP_001269978.1:p.Ser580AspfsTer14
NM_005154.4:c.2055_2056insGATTGGG NP_005145.3:p.Ser686AspfsTer14
XM_006720761.2:c.2055_2056insGATTGGG XP_006720824.1:p.Ser686AspfsTer14
XM_006720762.2:c.1968_1969insGATTGGG XP_006720825.1:p.Ser657AspfsTer14
XM_011522193.1:c.2055_2056insGATTGGG XP_011520495.1:p.Ser686AspfsTer14
XM_011522194.1:c.1383_1384insGATTGGG XP_011520496.1:p.Ser462AspfsTer14
XM_006720761.3:c.2055_2056insGATTGGG XP_006720824.1:p.Ser686AspfsTer14
XM_006720762.3:c.1968_1969insGATTGGG XP_006720825.1:p.Ser657AspfsTer14
XM_011522193.3:c.2055_2056insGATTGGG XP_011520495.1:p.Ser686AspfsTer14
XM_017022718.1:c.1968_1969insGATTGGG XP_016878207.1:p.Ser657AspfsTer14
XM_017022719.2:c.1968_1969insGATTGGG XP_016878208.1:p.Ser657AspfsTer14
XM_017022720.2:c.1968_1969insGATTGGG XP_016878209.1:p.Ser657AspfsTer14
XM_017022721.2:c.1485_1486insGATTGGG XP_016878210.1:p.Ser496AspfsTer14
XM_017022722.1:c.1485_1486insGATTGGG XP_016878211.1:p.Ser496AspfsTer14
XM_024450098.1:c.1485_1486insGATTGGG XP_024305866.1:p.Ser496AspfsTer14
NM_005154.5:c.2055_2056insGATTGGG MANE Select NP_005145.3:p.Ser686AspfsTer14
NM_001128610.3:c.2055_2056insGATTGGG NP_001122082.1:p.Ser686AspfsTer14
NM_001283049.2:c.1737_1738insGATTGGG NP_001269978.1:p.Ser580AspfsTer14