Canonical Allele Identifier: CA891841280

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952139_87952140delinsGT , CM000672.2:g.87952139_87952140delinsGT	GRCh38
NC_000010.10:g.89711896_89711897delinsGT , CM000672.1:g.89711896_89711897delinsGT	GRCh37
NC_000010.9:g.89701876_89701877delinsGT	NCBI36
NG_007466.2:g.93701_93702delinsGT , LRG_311:g.93701_93702delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.514_515delinsGT	ENSP00000514759.2:p.Arg172Val
ENST00000710265.1:c.514_515delinsGT	ENSP00000518161.1:p.Arg172Val
ENST00000472832.3:c.514_515delinsGT	ENSP00000483066.2:p.Arg172Val
ENST00000688158.2:n.1249_1250delinsGT
ENST00000688922.2:c.*344_*345delinsGT	ENSP00000508742.2:n.*344_*345delinsGT
ENST00000700021.1:c.469_470delinsGT	ENSP00000514757.1:p.Arg157Val
ENST00000700022.1:c.493-5714_493-5713delinsGT	ENSP00000514758.1:n.493-5714_493-5713delinsGT
ENST00000700023.1:n.1672_1673delinsGT
ENST00000700024.1:n.1906_1907delinsGT
ENST00000700025.1:n.1283_1284delinsGT
ENST00000700029.1:c.348_349delinsGT
ENST00000706954.1:c.514_515delinsGT	ENSP00000516674.1:p.Arg172Val
ENST00000706955.1:c.*549_*550delinsGT	ENSP00000516675.1:n.*549_*550delinsGT
ENST00000686459.1:c.*100_*101delinsGT	ENSP00000508909.1:n.*100_*101delinsGT
ENST00000688158.1:c.*625_*626delinsGT	ENSP00000509254.1:n.*625_*626delinsGT
ENST00000688308.1:c.514_515delinsGT	ENSP00000508752.1:p.Arg172Val
ENST00000688922.1:c.435_436delinsGT
ENST00000693560.1:c.1033_1034delinsGT	ENSP00000509861.1:p.Arg345Val
ENST00000371953.8:c.514_515delinsGT MANE Select	ENSP00000361021.3:p.Arg172Val
ENST00000371953.7:c.514_515delinsGT	ENSP00000361021.3:p.Arg172Val
NM_000314.5:c.514_515delinsGT	NP_000305.3:p.Arg172Val
NM_000314.6:c.514_515delinsGT	NP_000305.3:p.Arg172Val
NM_001304717.2:c.1033_1034delinsGT	NP_001291646.2:p.Arg345Val
NM_001304718.1:c.-78_-77delinsGT	NP_001291647.1:n.-78_-77delinsGT
XM_006717926.2:c.469_470delinsGT	XP_006717989.1:p.Arg157Val
XM_011539981.1:c.514_515delinsGT	XP_011538283.1:p.Arg172Val
XM_011539982.1:c.418_419delinsGT	XP_011538284.1:p.Arg140Val
XR_945789.1:n.1385_1386delinsGT
XR_945790.1:n.1502_1503delinsGT
XR_945791.1:n.1205-5714_1205-5713delinsGT
NM_000314.7:c.514_515delinsGT	NP_000305.3:p.Arg172Val
NM_001304717.5:c.1033_1034delinsGT	NP_001291646.4:p.Arg345Val
NM_001304718.2:c.-78_-77delinsGT	NP_001291647.1:n.-78_-77delinsGT
NM_000314.8:c.514_515delinsGT MANE Select	NP_000305.3:p.Arg172Val