Canonical Allele Identifier: CA270503694

Gene: USP8

Linked Data

• dbSNP Id: rs972529679
• gnomAD v2: 15-50782854-CCA-C
• gnomAD v3: 15-50490657-CCA-C
• gnomAD v4: 15-50490657-CCA-C
• MyVariant Identifiers: chr15:g.50782855_50782856del (hg19) ; chr15:g.50490658_50490659del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50490660_50490661del , CM000677.2:g.50490660_50490661del	GRCh38
NC_000015.9:g.50782857_50782858del , CM000677.1:g.50782857_50782858del	GRCh37
NC_000015.8:g.48570149_48570150del	NCBI36
NG_047101.1:g.71284_71285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307179.9:c.2234+135_2234+136del MANE Select	ENSP00000302239.4:n.2234+135_2234+136del
ENST00000307179.8:c.2234+135_2234+136del	ENSP00000302239.4:n.2234+135_2234+136del
ENST00000396444.7:c.2234+135_2234+136del	ENSP00000379721.3:n.2234+135_2234+136del
ENST00000425032.7:c.1916+135_1916+136del	ENSP00000412682.3:n.1916+135_1916+136del
NM_001128610.2:c.2234+135_2234+136del	NP_001122082.1:n.2234+135_2234+136del
NM_001283049.1:c.1916+135_1916+136del	NP_001269978.1:n.1916+135_1916+136del
NM_005154.4:c.2234+135_2234+136del	NP_005145.3:n.2234+135_2234+136del
XM_006720761.2:c.2234+135_2234+136del	XP_006720824.1:n.2234+135_2234+136del
XM_006720762.2:c.2147+135_2147+136del	XP_006720825.1:n.2147+135_2147+136del
XM_011522193.1:c.2234+135_2234+136del	XP_011520495.1:n.2234+135_2234+136del
XM_011522194.1:c.1562+135_1562+136del	XP_011520496.1:n.1562+135_1562+136del
XM_006720761.3:c.2234+135_2234+136del	XP_006720824.1:n.2234+135_2234+136del
XM_006720762.3:c.2147+135_2147+136del	XP_006720825.1:n.2147+135_2147+136del
XM_011522193.3:c.2234+135_2234+136del	XP_011520495.1:n.2234+135_2234+136del
XM_017022718.1:c.2147+135_2147+136del	XP_016878207.1:n.2147+135_2147+136del
XM_017022719.2:c.2147+135_2147+136del	XP_016878208.1:n.2147+135_2147+136del
XM_017022720.2:c.2147+135_2147+136del	XP_016878209.1:n.2147+135_2147+136del
XM_017022721.2:c.1664+135_1664+136del	XP_016878210.1:n.1664+135_1664+136del
XM_017022722.1:c.1664+135_1664+136del	XP_016878211.1:n.1664+135_1664+136del
XM_024450098.1:c.1664+135_1664+136del	XP_024305866.1:n.1664+135_1664+136del
NM_005154.5:c.2234+135_2234+136del MANE Select	NP_005145.3:n.2234+135_2234+136del
NM_001128610.3:c.2234+135_2234+136del	NP_001122082.1:n.2234+135_2234+136del
NM_001283049.2:c.1916+135_1916+136del	NP_001269978.1:n.1916+135_1916+136del