Canonical Allele Identifier: CA2579926804

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957957_87957958delinsAA , CM000672.2:g.87957957_87957958delinsAA	GRCh38
NC_000010.10:g.89717714_89717715delinsAA , CM000672.1:g.89717714_89717715delinsAA	GRCh37
NC_000010.9:g.89707694_89707695delinsAA	NCBI36
NG_007466.2:g.99519_99520delinsAA , LRG_311:g.99519_99520delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.739_740delinsAA	ENSP00000514759.2:p.Leu247Lys
ENST00000710265.1:c.739_740delinsAA	ENSP00000518161.1:p.Leu247Lys
ENST00000472832.3:c.739_740delinsAA	ENSP00000483066.2:p.Leu247Lys
ENST00000688158.2:n.1474_1475delinsAA
ENST00000688922.2:c.*569_*570delinsAA	ENSP00000508742.2:n.*569_*570delinsAA
ENST00000700021.1:c.694_695delinsAA	ENSP00000514757.1:p.Leu232Lys
ENST00000700022.1:c.*78_*79delinsAA	ENSP00000514758.1:n.*78_*79delinsAA
ENST00000700023.1:n.1897_1898delinsAA
ENST00000700024.1:n.2131_2132delinsAA
ENST00000700025.1:n.1508_1509delinsAA
ENST00000700026.1:n.376_377delinsAA
ENST00000700029.1:c.573_574delinsAA
ENST00000706954.1:c.739_740delinsAA	ENSP00000516674.1:p.Leu247Lys
ENST00000706955.1:c.*774_*775delinsAA	ENSP00000516675.1:n.*774_*775delinsAA
ENST00000686459.1:c.*325_*326delinsAA	ENSP00000508909.1:n.*325_*326delinsAA
ENST00000688158.1:c.*850_*851delinsAA	ENSP00000509254.1:n.*850_*851delinsAA
ENST00000688308.1:c.739_740delinsAA	ENSP00000508752.1:p.Leu247Lys
ENST00000688922.1:c.660_661delinsAA
ENST00000693560.1:c.1258_1259delinsAA	ENSP00000509861.1:p.Leu420Lys
ENST00000371953.8:c.739_740delinsAA MANE Select	ENSP00000361021.3:p.Leu247Lys
ENST00000371953.7:c.739_740delinsAA	ENSP00000361021.3:p.Leu247Lys
ENST00000472832.2:c.166_167delinsAA	ENSP00000483066.1:p.Leu56Lys
NM_000314.5:c.739_740delinsAA	NP_000305.3:p.Leu247Lys
NM_000314.6:c.739_740delinsAA	NP_000305.3:p.Leu247Lys
NM_001304717.2:c.1258_1259delinsAA	NP_001291646.2:p.Leu420Lys
NM_001304718.1:c.148_149delinsAA	NP_001291647.1:p.Leu50Lys
XM_006717926.2:c.694_695delinsAA	XP_006717989.1:p.Leu232Lys
XM_011539981.1:c.739_740delinsAA	XP_011538283.1:p.Leu247Lys
XM_011539982.1:c.643_644delinsAA	XP_011538284.1:p.Leu215Lys
XR_945791.1:n.1309_1310delinsAA
NM_000314.7:c.739_740delinsAA	NP_000305.3:p.Leu247Lys
NM_001304717.5:c.1258_1259delinsAA	NP_001291646.4:p.Leu420Lys
NM_001304718.2:c.148_149delinsAA	NP_001291647.1:p.Leu50Lys
NM_000314.8:c.739_740delinsAA MANE Select	NP_000305.3:p.Leu247Lys