Canonical Allele Identifier: CA658798541

Gene: USP7

Linked Data

• ClinVar Variation Id: 522827
• ClinVar RCV Id: RCV000625999 ; RCV001175169
• dbSNP Id: rs1555462347
• MyVariant Identifiers: chr16:g.8994885_8994886del (hg19) ; chr16:g.8901028_8901029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8901030_8901031del , CM000678.2:g.8901030_8901031del	GRCh38
NC_000016.9:g.8994887_8994888del , CM000678.1:g.8994887_8994888del	GRCh37
NC_000016.8:g.8902388_8902389del	NCBI36
NG_046847.1:g.67456_67457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344836.9:c.2169_2170del MANE Select	ENSP00000343535.4:p.Arg723SerfsTer8
ENST00000673704.1:c.2274_2275del	ENSP00000501290.1:p.Arg758SerfsTer8
ENST00000344836.8:c.2169_2170del	ENSP00000343535.4:p.Arg723SerfsTer8
ENST00000381886.8:c.2121_2122del	ENSP00000371310.4:p.Arg707SerfsTer8
ENST00000563043.1:c.64+113_64+114del	ENSP00000459594.1:n.64+113_64+114del
ENST00000563085.5:c.1872_1873del	ENSP00000454795.1:p.Arg624SerfsTer8
ENST00000563961.5:c.*1754_*1755del	ENSP00000454362.1:n.*1754_*1755del
ENST00000565455.5:c.*2152_*2153del	ENSP00000456258.1:n.*2152_*2153del
ENST00000567692.1:c.44+113_44+114del
ENST00000569448.1:n.107_108del
NM_001286457.1:c.2121_2122del	NP_001273386.1:p.Arg707SerfsTer8
NM_001286458.1:c.1872_1873del	NP_001273387.1:p.Arg624SerfsTer8
NM_003470.2:c.2169_2170del	NP_003461.2:p.Arg723SerfsTer8
NM_001321858.1:c.1995_1996del	NP_001308787.1:p.Arg665SerfsTer8
NR_135826.1:n.2150_2151del
XM_017023652.1:c.2169_2170del	XP_016879141.1:p.Arg723SerfsTer8
XM_017023653.2:c.2121_2122del	XP_016879142.1:p.Arg707SerfsTer8
NM_003470.3:c.2169_2170del MANE Select	NP_003461.2:p.Arg723SerfsTer8
NM_001286457.2:c.2121_2122del	NP_001273386.2:p.Arg707SerfsTer8
NM_001286458.2:c.1872_1873del	NP_001273387.1:p.Arg624SerfsTer8
NM_001321858.2:c.1995_1996del	NP_001308787.1:p.Arg665SerfsTer8
NR_135826.2:n.2150_2151del