Canonical Allele Identifier: CA2579926834

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957858_87957860delinsGCT , CM000672.2:g.87957858_87957860delinsGCT	GRCh38
NC_000010.10:g.89717615_89717617delinsGCT , CM000672.1:g.89717615_89717617delinsGCT	GRCh37
NC_000010.9:g.89707595_89707597delinsGCT	NCBI36
NG_007466.2:g.99420_99422delinsGCT , LRG_311:g.99420_99422delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.640_642delinsGCT	ENSP00000514759.2:p.Gln214Ala
ENST00000710265.1:c.640_642delinsGCT	ENSP00000518161.1:p.Gln214Ala
ENST00000472832.3:c.640_642delinsGCT	ENSP00000483066.2:p.Gln214Ala
ENST00000688158.2:n.1375_1377delinsGCT
ENST00000688922.2:c.*470_*472delinsGCT	ENSP00000508742.2:n.*470_*472delinsGCT
ENST00000700021.1:c.595_597delinsGCT	ENSP00000514757.1:p.Gln199Ala
ENST00000700022.1:c.498_500delinsGCT	ENSP00000514758.1:p.Ser167Leu
ENST00000700023.1:n.1798_1800delinsGCT
ENST00000700024.1:n.2032_2034delinsGCT
ENST00000700025.1:n.1409_1411delinsGCT
ENST00000700026.1:n.277_279delinsGCT
ENST00000700029.1:c.474_476delinsGCT
ENST00000706954.1:c.640_642delinsGCT	ENSP00000516674.1:p.Gln214Ala
ENST00000706955.1:c.*675_*677delinsGCT	ENSP00000516675.1:n.*675_*677delinsGCT
ENST00000686459.1:c.*226_*228delinsGCT	ENSP00000508909.1:n.*226_*228delinsGCT
ENST00000688158.1:c.*751_*753delinsGCT	ENSP00000509254.1:n.*751_*753delinsGCT
ENST00000688308.1:c.640_642delinsGCT	ENSP00000508752.1:p.Gln214Ala
ENST00000688922.1:c.561_563delinsGCT
ENST00000693560.1:c.1159_1161delinsGCT	ENSP00000509861.1:p.Gln387Ala
ENST00000371953.8:c.640_642delinsGCT MANE Select	ENSP00000361021.3:p.Gln214Ala
ENST00000371953.7:c.640_642delinsGCT	ENSP00000361021.3:p.Gln214Ala
ENST00000472832.2:c.67_69delinsGCT	ENSP00000483066.1:p.Gln23Ala
NM_000314.5:c.640_642delinsGCT	NP_000305.3:p.Gln214Ala
NM_000314.6:c.640_642delinsGCT	NP_000305.3:p.Gln214Ala
NM_001304717.2:c.1159_1161delinsGCT	NP_001291646.2:p.Gln387Ala
NM_001304718.1:c.49_51delinsGCT	NP_001291647.1:p.Gln17Ala
XM_006717926.2:c.595_597delinsGCT	XP_006717989.1:p.Gln199Ala
XM_011539981.1:c.640_642delinsGCT	XP_011538283.1:p.Gln214Ala
XM_011539982.1:c.544_546delinsGCT	XP_011538284.1:p.Gln182Ala
XR_945791.1:n.1210_1212delinsGCT
NM_000314.7:c.640_642delinsGCT	NP_000305.3:p.Gln214Ala
NM_001304717.5:c.1159_1161delinsGCT	NP_001291646.4:p.Gln387Ala
NM_001304718.2:c.49_51delinsGCT	NP_001291647.1:p.Gln17Ala
NM_000314.8:c.640_642delinsGCT MANE Select	NP_000305.3:p.Gln214Ala