Canonical Allele Identifier: CA2573145737

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1423416
• ClinVar RCV Id: RCV001954795
• dbSNP Id: rs1114167682

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961050_87961051del , CM000672.2:g.87961050_87961051del	GRCh38
NC_000010.10:g.89720807_89720808del , CM000672.1:g.89720807_89720808del	GRCh37
NC_000010.9:g.89710787_89710788del	NCBI36
NG_007466.2:g.102612_102613del , LRG_311:g.102612_102613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1051_1052del	ENSP00000514759.2:p.Leu351AsnfsTer4
ENST00000710265.1:c.958_959del	ENSP00000518161.1:p.Leu320AsnfsTer4
ENST00000472832.3:c.958_959del	ENSP00000483066.2:p.Leu320AsnfsTer4
ENST00000688158.2:n.1693_1694del
ENST00000688922.2:c.*788_*789del	ENSP00000508742.2:n.*788_*789del
ENST00000700021.1:c.913_914del	ENSP00000514757.1:p.Leu305AsnfsTer4
ENST00000700022.1:c.*297_*298del	ENSP00000514758.1:n.*297_*298del
ENST00000700023.1:n.2116_2117del
ENST00000700024.1:n.2350_2351del
ENST00000700025.1:n.1727_1728del
ENST00000700026.1:n.595_596del
ENST00000706954.1:c.958_959del	ENSP00000516674.1:p.Leu320AsnfsTer4
ENST00000706955.1:c.*993_*994del	ENSP00000516675.1:n.*993_*994del
ENST00000686459.1:c.*544_*545del	ENSP00000508909.1:n.*544_*545del
ENST00000688158.1:c.*1069_*1070del	ENSP00000509254.1:n.*1069_*1070del
ENST00000688308.1:c.958_959del	ENSP00000508752.1:p.Leu320AsnfsTer4
ENST00000688922.1:c.879_880del
ENST00000693560.1:c.1477_1478del	ENSP00000509861.1:p.Leu493AsnfsTer4
ENST00000371953.8:c.958_959del MANE Select	ENSP00000361021.3:p.Leu320AsnfsTer4
ENST00000371953.7:c.958_959del	ENSP00000361021.3:p.Leu320AsnfsTer4
ENST00000472832.2:c.385_386del	ENSP00000483066.1:p.Leu129AsnfsTer4
NM_000314.5:c.958_959del	NP_000305.3:p.Leu320AsnfsTer4
NM_000314.6:c.958_959del	NP_000305.3:p.Leu320AsnfsTer4
NM_001304717.2:c.1477_1478del	NP_001291646.2:p.Leu493AsnfsTer4
NM_001304718.1:c.367_368del	NP_001291647.1:p.Leu123AsnfsTer4
XM_006717926.2:c.913_914del	XP_006717989.1:p.Leu305AsnfsTer4
XM_011539981.1:c.958_959del	XP_011538283.1:p.Leu320AsnfsTer4
XM_011539982.1:c.862_863del	XP_011538284.1:p.Leu288AsnfsTer4
XR_945791.1:n.1528_1529del
NM_000314.7:c.958_959del	NP_000305.3:p.Leu320AsnfsTer4
NM_001304717.5:c.1477_1478del	NP_001291646.4:p.Leu493AsnfsTer4
NM_001304718.2:c.367_368del	NP_001291647.1:p.Leu123AsnfsTer4
NM_000314.8:c.958_959del MANE Select	NP_000305.3:p.Leu320AsnfsTer4