Canonical Allele Identifier: CA713552921

Gene: USP8

Linked Data

• dbSNP Id: rs1258598776
• gnomAD v3: 15-50490688-ATGT-A
• gnomAD v4: 15-50490688-ATGT-A
• MyVariant Identifiers: chr15:g.50782886_50782888del (hg19) ; chr15:g.50490689_50490691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490694_50490696del , CM000677.2:g.50490694_50490696del	GRCh38
NC_000015.9:g.50782891_50782893del , CM000677.1:g.50782891_50782893del	GRCh37
NC_000015.8:g.48570183_48570185del	NCBI36
NG_047101.1:g.71318_71320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2234+169_2234+171del MANE Select	ENSP00000302239.4:n.2234+169_2234+171del
ENST00000307179.8:c.2234+169_2234+171del	ENSP00000302239.4:n.2234+169_2234+171del
ENST00000396444.7:c.2234+169_2234+171del	ENSP00000379721.3:n.2234+169_2234+171del
ENST00000425032.7:c.1916+169_1916+171del	ENSP00000412682.3:n.1916+169_1916+171del
NM_001128610.2:c.2234+169_2234+171del	NP_001122082.1:n.2234+169_2234+171del
NM_001283049.1:c.1916+169_1916+171del	NP_001269978.1:n.1916+169_1916+171del
NM_005154.4:c.2234+169_2234+171del	NP_005145.3:n.2234+169_2234+171del
XM_006720761.2:c.2234+169_2234+171del	XP_006720824.1:n.2234+169_2234+171del
XM_006720762.2:c.2147+169_2147+171del	XP_006720825.1:n.2147+169_2147+171del
XM_011522193.1:c.2234+169_2234+171del	XP_011520495.1:n.2234+169_2234+171del
XM_011522194.1:c.1562+169_1562+171del	XP_011520496.1:n.1562+169_1562+171del
XM_006720761.3:c.2234+169_2234+171del	XP_006720824.1:n.2234+169_2234+171del
XM_006720762.3:c.2147+169_2147+171del	XP_006720825.1:n.2147+169_2147+171del
XM_011522193.3:c.2234+169_2234+171del	XP_011520495.1:n.2234+169_2234+171del
XM_017022718.1:c.2147+169_2147+171del	XP_016878207.1:n.2147+169_2147+171del
XM_017022719.2:c.2147+169_2147+171del	XP_016878208.1:n.2147+169_2147+171del
XM_017022720.2:c.2147+169_2147+171del	XP_016878209.1:n.2147+169_2147+171del
XM_017022721.2:c.1664+169_1664+171del	XP_016878210.1:n.1664+169_1664+171del
XM_017022722.1:c.1664+169_1664+171del	XP_016878211.1:n.1664+169_1664+171del
XM_024450098.1:c.1664+169_1664+171del	XP_024305866.1:n.1664+169_1664+171del
NM_005154.5:c.2234+169_2234+171del MANE Select	NP_005145.3:n.2234+169_2234+171del
NM_001128610.3:c.2234+169_2234+171del	NP_001122082.1:n.2234+169_2234+171del
NM_001283049.2:c.1916+169_1916+171del	NP_001269978.1:n.1916+169_1916+171del