Canonical Allele Identifier: CA891839842

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957957_87957959delinsGTT , CM000672.2:g.87957957_87957959delinsGTT	GRCh38
NC_000010.10:g.89717714_89717716delinsGTT , CM000672.1:g.89717714_89717716delinsGTT	GRCh37
NC_000010.9:g.89707694_89707696delinsGTT	NCBI36
NG_007466.2:g.99519_99521delinsGTT , LRG_311:g.99519_99521delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.739_741delinsGTT	ENSP00000514759.2:p.Leu247Val
ENST00000710265.1:c.739_741delinsGTT	ENSP00000518161.1:p.Leu247Val
ENST00000472832.3:c.739_741delinsGTT	ENSP00000483066.2:p.Leu247Val
ENST00000688158.2:n.1474_1476delinsGTT
ENST00000688922.2:c.*569_*571delinsGTT	ENSP00000508742.2:n.*569_*571delinsGTT
ENST00000700021.1:c.694_696delinsGTT	ENSP00000514757.1:p.Leu232Val
ENST00000700022.1:c.*78_*80delinsGTT	ENSP00000514758.1:n.*78_*80delinsGTT
ENST00000700023.1:n.1897_1899delinsGTT
ENST00000700024.1:n.2131_2133delinsGTT
ENST00000700025.1:n.1508_1510delinsGTT
ENST00000700026.1:n.376_378delinsGTT
ENST00000700029.1:c.573_575delinsGTT
ENST00000706954.1:c.739_741delinsGTT	ENSP00000516674.1:p.Leu247Val
ENST00000706955.1:c.*774_*776delinsGTT	ENSP00000516675.1:n.*774_*776delinsGTT
ENST00000686459.1:c.*325_*327delinsGTT	ENSP00000508909.1:n.*325_*327delinsGTT
ENST00000688158.1:c.*850_*852delinsGTT	ENSP00000509254.1:n.*850_*852delinsGTT
ENST00000688308.1:c.739_741delinsGTT	ENSP00000508752.1:p.Leu247Val
ENST00000688922.1:c.660_662delinsGTT
ENST00000693560.1:c.1258_1260delinsGTT	ENSP00000509861.1:p.Leu420Val
ENST00000371953.8:c.739_741delinsGTT MANE Select	ENSP00000361021.3:p.Leu247Val
ENST00000371953.7:c.739_741delinsGTT	ENSP00000361021.3:p.Leu247Val
ENST00000472832.2:c.166_168delinsGTT	ENSP00000483066.1:p.Leu56Val
NM_000314.5:c.739_741delinsGTT	NP_000305.3:p.Leu247Val
NM_000314.6:c.739_741delinsGTT	NP_000305.3:p.Leu247Val
NM_001304717.2:c.1258_1260delinsGTT	NP_001291646.2:p.Leu420Val
NM_001304718.1:c.148_150delinsGTT	NP_001291647.1:p.Leu50Val
XM_006717926.2:c.694_696delinsGTT	XP_006717989.1:p.Leu232Val
XM_011539981.1:c.739_741delinsGTT	XP_011538283.1:p.Leu247Val
XM_011539982.1:c.643_645delinsGTT	XP_011538284.1:p.Leu215Val
XR_945791.1:n.1309_1311delinsGTT
NM_000314.7:c.739_741delinsGTT	NP_000305.3:p.Leu247Val
NM_001304717.5:c.1258_1260delinsGTT	NP_001291646.4:p.Leu420Val
NM_001304718.2:c.148_150delinsGTT	NP_001291647.1:p.Leu50Val
NM_000314.8:c.739_741delinsGTT MANE Select	NP_000305.3:p.Leu247Val