Canonical Allele Identifier: CA2579986048

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957879_87957880delinsTT , CM000672.2:g.87957879_87957880delinsTT	GRCh38
NC_000010.10:g.89717636_89717637delinsTT , CM000672.1:g.89717636_89717637delinsTT	GRCh37
NC_000010.9:g.89707616_89707617delinsTT	NCBI36
NG_007466.2:g.99441_99442delinsTT , LRG_311:g.99441_99442delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.661_662delinsTT	ENSP00000514759.2:p.Lys221Leu
ENST00000710265.1:c.661_662delinsTT	ENSP00000518161.1:p.Lys221Leu
ENST00000472832.3:c.661_662delinsTT	ENSP00000483066.2:p.Lys221Leu
ENST00000688158.2:n.1396_1397delinsTT
ENST00000688922.2:c.*491_*492delinsTT	ENSP00000508742.2:n.*491_*492delinsTT
ENST00000700021.1:c.616_617delinsTT	ENSP00000514757.1:p.Lys206Leu
ENST00000700022.1:c.519_*1delinsTT	ENSP00000514758.1:n.[c.519_*1delinsTT;Ter173TyrextTer3]
ENST00000700023.1:n.1819_1820delinsTT
ENST00000700024.1:n.2053_2054delinsTT
ENST00000700025.1:n.1430_1431delinsTT
ENST00000700026.1:n.298_299delinsTT
ENST00000700029.1:c.495_496delinsTT
ENST00000706954.1:c.661_662delinsTT	ENSP00000516674.1:p.Lys221Leu
ENST00000706955.1:c.*696_*697delinsTT	ENSP00000516675.1:n.*696_*697delinsTT
ENST00000686459.1:c.*247_*248delinsTT	ENSP00000508909.1:n.*247_*248delinsTT
ENST00000688158.1:c.*772_*773delinsTT	ENSP00000509254.1:n.*772_*773delinsTT
ENST00000688308.1:c.661_662delinsTT	ENSP00000508752.1:p.Lys221Leu
ENST00000688922.1:c.582_583delinsTT
ENST00000693560.1:c.1180_1181delinsTT	ENSP00000509861.1:p.Lys394Leu
ENST00000371953.8:c.661_662delinsTT MANE Select	ENSP00000361021.3:p.Lys221Leu
ENST00000371953.7:c.661_662delinsTT	ENSP00000361021.3:p.Lys221Leu
ENST00000472832.2:c.88_89delinsTT	ENSP00000483066.1:p.Lys30Leu
NM_000314.5:c.661_662delinsTT	NP_000305.3:p.Lys221Leu
NM_000314.6:c.661_662delinsTT	NP_000305.3:p.Lys221Leu
NM_001304717.2:c.1180_1181delinsTT	NP_001291646.2:p.Lys394Leu
NM_001304718.1:c.70_71delinsTT	NP_001291647.1:p.Lys24Leu
XM_006717926.2:c.616_617delinsTT	XP_006717989.1:p.Lys206Leu
XM_011539981.1:c.661_662delinsTT	XP_011538283.1:p.Lys221Leu
XM_011539982.1:c.565_566delinsTT	XP_011538284.1:p.Lys189Leu
XR_945791.1:n.1231_1232delinsTT
NM_000314.7:c.661_662delinsTT	NP_000305.3:p.Lys221Leu
NM_001304717.5:c.1180_1181delinsTT	NP_001291646.4:p.Lys394Leu
NM_001304718.2:c.70_71delinsTT	NP_001291647.1:p.Lys24Leu
NM_000314.8:c.661_662delinsTT MANE Select	NP_000305.3:p.Lys221Leu