Canonical Allele Identifier: CA174935

Gene: USP8

Linked Data

• ClinVar Variation Id: 161991
• ClinVar RCV Id: RCV000149416
• dbSNP Id: rs672601306
• gnomAD v4: 15-50490441-ACTC-A
• COSMIC: COSM4997272 ; COSM5967223
• MyVariant Identifiers: chr15:g.50782643_50782645del (hg19) ; chr15:g.50490446_50490448del (hg38)
• PubMed: PMID:25675982 ; PMID:25942478

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490446_50490448del , CM000677.2:g.50490446_50490448del	GRCh38
NC_000015.9:g.50782643_50782645del , CM000677.1:g.50782643_50782645del	GRCh37
NC_000015.8:g.48569935_48569937del	NCBI36
NG_047101.1:g.71070_71072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2155_2157del MANE Select	ENSP00000302239.4:p.Ser719del
ENST00000307179.8:c.2155_2157del	ENSP00000302239.4:p.Ser719del
ENST00000396444.7:c.2155_2157del	ENSP00000379721.3:p.Ser719del
ENST00000425032.7:c.1837_1839del	ENSP00000412682.3:p.Ser613del
NM_001128610.2:c.2155_2157del	NP_001122082.1:p.Ser719del
NM_001283049.1:c.1837_1839del	NP_001269978.1:p.Ser613del
NM_005154.4:c.2155_2157del	NP_005145.3:p.Ser719del
XM_006720761.2:c.2155_2157del	XP_006720824.1:p.Ser719del
XM_006720762.2:c.2068_2070del	XP_006720825.1:p.Ser690del
XM_011522193.1:c.2155_2157del	XP_011520495.1:p.Ser719del
XM_011522194.1:c.1483_1485del	XP_011520496.1:p.Ser495del
XM_006720761.3:c.2155_2157del	XP_006720824.1:p.Ser719del
XM_006720762.3:c.2068_2070del	XP_006720825.1:p.Ser690del
XM_011522193.3:c.2155_2157del	XP_011520495.1:p.Ser719del
XM_017022718.1:c.2068_2070del	XP_016878207.1:p.Ser690del
XM_017022719.2:c.2068_2070del	XP_016878208.1:p.Ser690del
XM_017022720.2:c.2068_2070del	XP_016878209.1:p.Ser690del
XM_017022721.2:c.1585_1587del	XP_016878210.1:p.Ser529del
XM_017022722.1:c.1585_1587del	XP_016878211.1:p.Ser529del
XM_024450098.1:c.1585_1587del	XP_024305866.1:p.Ser529del
NM_005154.5:c.2155_2157del MANE Select	NP_005145.3:p.Ser719del
NM_001128610.3:c.2155_2157del	NP_001122082.1:p.Ser719del
NM_001283049.2:c.1837_1839del	NP_001269978.1:p.Ser613del