Canonical Allele Identifier: CA891838741

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952143_87952144delinsAA , CM000672.2:g.87952143_87952144delinsAA	GRCh38
NC_000010.10:g.89711900_89711901delinsAA , CM000672.1:g.89711900_89711901delinsAA	GRCh37
NC_000010.9:g.89701880_89701881delinsAA	NCBI36
NG_007466.2:g.93705_93706delinsAA , LRG_311:g.93705_93706delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.518_519delinsAA	ENSP00000514759.2:p.Arg173Gln
ENST00000710265.1:c.518_519delinsAA	ENSP00000518161.1:p.Arg173Gln
ENST00000472832.3:c.518_519delinsAA	ENSP00000483066.2:p.Arg173Gln
ENST00000688158.2:n.1253_1254delinsAA
ENST00000688922.2:c.*348_*349delinsAA	ENSP00000508742.2:n.*348_*349delinsAA
ENST00000700021.1:c.473_474delinsAA	ENSP00000514757.1:p.Arg158Gln
ENST00000700022.1:c.493-5710_493-5709delinsAA	ENSP00000514758.1:n.493-5710_493-5709delinsAA
ENST00000700023.1:n.1676_1677delinsAA
ENST00000700024.1:n.1910_1911delinsAA
ENST00000700025.1:n.1287_1288delinsAA
ENST00000700029.1:c.352_353delinsAA
ENST00000706954.1:c.518_519delinsAA	ENSP00000516674.1:p.Arg173Gln
ENST00000706955.1:c.*553_*554delinsAA	ENSP00000516675.1:n.*553_*554delinsAA
ENST00000686459.1:c.*104_*105delinsAA	ENSP00000508909.1:n.*104_*105delinsAA
ENST00000688158.1:c.*629_*630delinsAA	ENSP00000509254.1:n.*629_*630delinsAA
ENST00000688308.1:c.518_519delinsAA	ENSP00000508752.1:p.Arg173Gln
ENST00000688922.1:c.439_440delinsAA
ENST00000693560.1:c.1037_1038delinsAA	ENSP00000509861.1:p.Arg346Gln
ENST00000371953.8:c.518_519delinsAA MANE Select	ENSP00000361021.3:p.Arg173Gln
ENST00000371953.7:c.518_519delinsAA	ENSP00000361021.3:p.Arg173Gln
NM_000314.5:c.518_519delinsAA	NP_000305.3:p.Arg173Gln
NM_000314.6:c.518_519delinsAA	NP_000305.3:p.Arg173Gln
NM_001304717.2:c.1037_1038delinsAA	NP_001291646.2:p.Arg346Gln
NM_001304718.1:c.-74_-73delinsAA	NP_001291647.1:n.-74_-73delinsAA
XM_006717926.2:c.473_474delinsAA	XP_006717989.1:p.Arg158Gln
XM_011539981.1:c.518_519delinsAA	XP_011538283.1:p.Arg173Gln
XM_011539982.1:c.422_423delinsAA	XP_011538284.1:p.Arg141Gln
XR_945789.1:n.1389_1390delinsAA
XR_945790.1:n.1506_1507delinsAA
XR_945791.1:n.1205-5710_1205-5709delinsAA
NM_000314.7:c.518_519delinsAA	NP_000305.3:p.Arg173Gln
NM_001304717.5:c.1037_1038delinsAA	NP_001291646.4:p.Arg346Gln
NM_001304718.2:c.-74_-73delinsAA	NP_001291647.1:n.-74_-73delinsAA
NM_000314.8:c.518_519delinsAA MANE Select	NP_000305.3:p.Arg173Gln