Canonical Allele Identifier: CA891840320

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957858_87957859delinsGT , CM000672.2:g.87957858_87957859delinsGT	GRCh38
NC_000010.10:g.89717615_89717616delinsGT , CM000672.1:g.89717615_89717616delinsGT	GRCh37
NC_000010.9:g.89707595_89707596delinsGT	NCBI36
NG_007466.2:g.99420_99421delinsGT , LRG_311:g.99420_99421delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.640_641delinsGT	ENSP00000514759.2:p.Gln214Val
ENST00000710265.1:c.640_641delinsGT	ENSP00000518161.1:p.Gln214Val
ENST00000472832.3:c.640_641delinsGT	ENSP00000483066.2:p.Gln214Val
ENST00000688158.2:n.1375_1376delinsGT
ENST00000688922.2:c.*470_*471delinsGT	ENSP00000508742.2:n.*470_*471delinsGT
ENST00000700021.1:c.595_596delinsGT	ENSP00000514757.1:p.Gln199Val
ENST00000700022.1:c.498_499delinsGT	ENSP00000514758.1:p.Ser167Cys
ENST00000700023.1:n.1798_1799delinsGT
ENST00000700024.1:n.2032_2033delinsGT
ENST00000700025.1:n.1409_1410delinsGT
ENST00000700026.1:n.277_278delinsGT
ENST00000700029.1:c.474_475delinsGT
ENST00000706954.1:c.640_641delinsGT	ENSP00000516674.1:p.Gln214Val
ENST00000706955.1:c.*675_*676delinsGT	ENSP00000516675.1:n.*675_*676delinsGT
ENST00000686459.1:c.*226_*227delinsGT	ENSP00000508909.1:n.*226_*227delinsGT
ENST00000688158.1:c.*751_*752delinsGT	ENSP00000509254.1:n.*751_*752delinsGT
ENST00000688308.1:c.640_641delinsGT	ENSP00000508752.1:p.Gln214Val
ENST00000688922.1:c.561_562delinsGT
ENST00000693560.1:c.1159_1160delinsGT	ENSP00000509861.1:p.Gln387Val
ENST00000371953.8:c.640_641delinsGT MANE Select	ENSP00000361021.3:p.Gln214Val
ENST00000371953.7:c.640_641delinsGT	ENSP00000361021.3:p.Gln214Val
ENST00000472832.2:c.67_68delinsGT	ENSP00000483066.1:p.Gln23Val
NM_000314.5:c.640_641delinsGT	NP_000305.3:p.Gln214Val
NM_000314.6:c.640_641delinsGT	NP_000305.3:p.Gln214Val
NM_001304717.2:c.1159_1160delinsGT	NP_001291646.2:p.Gln387Val
NM_001304718.1:c.49_50delinsGT	NP_001291647.1:p.Gln17Val
XM_006717926.2:c.595_596delinsGT	XP_006717989.1:p.Gln199Val
XM_011539981.1:c.640_641delinsGT	XP_011538283.1:p.Gln214Val
XM_011539982.1:c.544_545delinsGT	XP_011538284.1:p.Gln182Val
XR_945791.1:n.1210_1211delinsGT
NM_000314.7:c.640_641delinsGT	NP_000305.3:p.Gln214Val
NM_001304717.5:c.1159_1160delinsGT	NP_001291646.4:p.Gln387Val
NM_001304718.2:c.49_50delinsGT	NP_001291647.1:p.Gln17Val
NM_000314.8:c.640_641delinsGT MANE Select	NP_000305.3:p.Gln214Val