Canonical Allele Identifier: CA1139661602

Gene: PTEN

Linked Data

• ClinVar Variation Id: 872238
• ClinVar RCV Id: RCV001092598
• dbSNP Id: rs1860417110

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952141del , CM000672.2:g.87952141del	GRCh38
NC_000010.10:g.89711898del , CM000672.1:g.89711898del	GRCh37
NC_000010.9:g.89701878del	NCBI36
NG_007466.2:g.93703del , LRG_311:g.93703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.516del	ENSP00000514759.2:p.Arg172SerfsTer11
ENST00000710265.1:c.516del	ENSP00000518161.1:p.Arg172SerfsTer11
ENST00000472832.3:c.516del	ENSP00000483066.2:p.Arg172SerfsTer11
ENST00000688158.2:n.1251del
ENST00000688922.2:c.*346del	ENSP00000508742.2:n.*346del
ENST00000700021.1:c.471del	ENSP00000514757.1:p.Arg157SerfsTer11
ENST00000700022.1:c.493-5712del	ENSP00000514758.1:n.493-5712del
ENST00000700023.1:n.1674del
ENST00000700024.1:n.1908del
ENST00000700025.1:n.1285del
ENST00000700029.1:c.350del
ENST00000706954.1:c.516del	ENSP00000516674.1:p.Arg172SerfsTer11
ENST00000706955.1:c.*551del	ENSP00000516675.1:n.*551del
ENST00000686459.1:c.*102del	ENSP00000508909.1:n.*102del
ENST00000688158.1:c.*627del	ENSP00000509254.1:n.*627del
ENST00000688308.1:c.516del	ENSP00000508752.1:p.Arg172SerfsTer11
ENST00000688922.1:c.437del
ENST00000693560.1:c.1035del	ENSP00000509861.1:p.Arg345SerfsTer11
ENST00000371953.8:c.516del MANE Select	ENSP00000361021.3:p.Arg172SerfsTer11
ENST00000371953.7:c.516del	ENSP00000361021.3:p.Arg172SerfsTer11
NM_000314.5:c.516del	NP_000305.3:p.Arg172SerfsTer11
NM_000314.6:c.516del	NP_000305.3:p.Arg172SerfsTer11
NM_001304717.2:c.1035del	NP_001291646.2:p.Arg345SerfsTer11
NM_001304718.1:c.-76del	NP_001291647.1:n.-76del
XM_006717926.2:c.471del	XP_006717989.1:p.Arg157SerfsTer11
XM_011539981.1:c.516del	XP_011538283.1:p.Arg172SerfsTer11
XM_011539982.1:c.420del	XP_011538284.1:p.Arg140SerfsTer11
XR_945789.1:n.1387del
XR_945790.1:n.1504del
XR_945791.1:n.1205-5712del
NM_000314.7:c.516del	NP_000305.3:p.Arg172SerfsTer11
NM_001304717.5:c.1035del	NP_001291646.4:p.Arg345SerfsTer11
NM_001304718.2:c.-76del	NP_001291647.1:n.-76del
NM_000314.8:c.516del MANE Select	NP_000305.3:p.Arg172SerfsTer11