Canonical Allele Identifier: CA2579926827

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957866_87957868del , CM000672.2:g.87957866_87957868del	GRCh38
NC_000010.10:g.89717623_89717625del , CM000672.1:g.89717623_89717625del	GRCh37
NC_000010.9:g.89707603_89707605del	NCBI36
NG_007466.2:g.99428_99430del , LRG_311:g.99428_99430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.648_650del	ENSP00000514759.2:p.Val217del
ENST00000710265.1:c.648_650del	ENSP00000518161.1:p.Val217del
ENST00000472832.3:c.648_650del	ENSP00000483066.2:p.Val217del
ENST00000688158.2:n.1383_1385del
ENST00000688922.2:c.*478_*480del	ENSP00000508742.2:n.*478_*480del
ENST00000700021.1:c.603_605del	ENSP00000514757.1:p.Val202del
ENST00000700022.1:c.506_508del	ENSP00000514758.1:p.Trp169del
ENST00000700023.1:n.1806_1808del
ENST00000700024.1:n.2040_2042del
ENST00000700025.1:n.1417_1419del
ENST00000700026.1:n.285_287del
ENST00000700029.1:c.482_484del
ENST00000706954.1:c.648_650del	ENSP00000516674.1:p.Val217del
ENST00000706955.1:c.*683_*685del	ENSP00000516675.1:n.*683_*685del
ENST00000686459.1:c.*234_*236del	ENSP00000508909.1:n.*234_*236del
ENST00000688158.1:c.*759_*761del	ENSP00000509254.1:n.*759_*761del
ENST00000688308.1:c.648_650del	ENSP00000508752.1:p.Val217del
ENST00000688922.1:c.569_571del
ENST00000693560.1:c.1167_1169del	ENSP00000509861.1:p.Val390del
ENST00000371953.8:c.648_650del MANE Select	ENSP00000361021.3:p.Val217del
ENST00000371953.7:c.648_650del	ENSP00000361021.3:p.Val217del
ENST00000472832.2:c.75_77del	ENSP00000483066.1:p.Val26del
NM_000314.5:c.648_650del	NP_000305.3:p.Val217del
NM_000314.6:c.648_650del	NP_000305.3:p.Val217del
NM_001304717.2:c.1167_1169del	NP_001291646.2:p.Val390del
NM_001304718.1:c.57_59del	NP_001291647.1:p.Val20del
XM_006717926.2:c.603_605del	XP_006717989.1:p.Val202del
XM_011539981.1:c.648_650del	XP_011538283.1:p.Val217del
XM_011539982.1:c.552_554del	XP_011538284.1:p.Val185del
XR_945791.1:n.1218_1220del
NM_000314.7:c.648_650del	NP_000305.3:p.Val217del
NM_001304717.5:c.1167_1169del	NP_001291646.4:p.Val390del
NM_001304718.2:c.57_59del	NP_001291647.1:p.Val20del
NM_000314.8:c.648_650del MANE Select	NP_000305.3:p.Val217del