Canonical Allele Identifier: CA2575722737

Gene: USP8

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490315_50490316del , CM000677.2:g.50490315_50490316del	GRCh38
NC_000015.9:g.50782512_50782513del , CM000677.1:g.50782512_50782513del	GRCh37
NC_000015.8:g.48569804_48569805del	NCBI36
NG_047101.1:g.70939_70940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2024_2025del MANE Select	ENSP00000302239.4:p.Thr675SerfsTer22
ENST00000307179.8:c.2024_2025del	ENSP00000302239.4:p.Thr675SerfsTer22
ENST00000396444.7:c.2024_2025del	ENSP00000379721.3:p.Thr675SerfsTer22
ENST00000425032.7:c.1706_1707del	ENSP00000412682.3:p.Thr569SerfsTer22
ENST00000561206.1:n.441_442del
NM_001128610.2:c.2024_2025del	NP_001122082.1:p.Thr675SerfsTer22
NM_001283049.1:c.1706_1707del	NP_001269978.1:p.Thr569SerfsTer22
NM_005154.4:c.2024_2025del	NP_005145.3:p.Thr675SerfsTer22
XM_006720761.2:c.2024_2025del	XP_006720824.1:p.Thr675SerfsTer22
XM_006720762.2:c.1937_1938del	XP_006720825.1:p.Thr646SerfsTer22
XM_011522193.1:c.2024_2025del	XP_011520495.1:p.Thr675SerfsTer22
XM_011522194.1:c.1352_1353del	XP_011520496.1:p.Thr451SerfsTer22
XM_006720761.3:c.2024_2025del	XP_006720824.1:p.Thr675SerfsTer22
XM_006720762.3:c.1937_1938del	XP_006720825.1:p.Thr646SerfsTer22
XM_011522193.3:c.2024_2025del	XP_011520495.1:p.Thr675SerfsTer22
XM_017022718.1:c.1937_1938del	XP_016878207.1:p.Thr646SerfsTer22
XM_017022719.2:c.1937_1938del	XP_016878208.1:p.Thr646SerfsTer22
XM_017022720.2:c.1937_1938del	XP_016878209.1:p.Thr646SerfsTer22
XM_017022721.2:c.1454_1455del	XP_016878210.1:p.Thr485SerfsTer22
XM_017022722.1:c.1454_1455del	XP_016878211.1:p.Thr485SerfsTer22
XM_024450098.1:c.1454_1455del	XP_024305866.1:p.Thr485SerfsTer22
NM_005154.5:c.2024_2025del MANE Select	NP_005145.3:p.Thr675SerfsTer22
NM_001128610.3:c.2024_2025del	NP_001122082.1:p.Thr675SerfsTer22
NM_001283049.2:c.1706_1707del	NP_001269978.1:p.Thr569SerfsTer22