Canonical Allele Identifier: CA891836567

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961050_87961051delinsCA , CM000672.2:g.87961050_87961051delinsCA	GRCh38
NC_000010.10:g.89720807_89720808delinsCA , CM000672.1:g.89720807_89720808delinsCA	GRCh37
NC_000010.9:g.89710787_89710788delinsCA	NCBI36
NG_007466.2:g.102612_102613delinsCA , LRG_311:g.102612_102613delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1051_1052delinsCA	ENSP00000514759.2:p.Leu351Gln
ENST00000710265.1:c.958_959delinsCA	ENSP00000518161.1:p.Leu320Gln
ENST00000472832.3:c.958_959delinsCA	ENSP00000483066.2:p.Leu320Gln
ENST00000688158.2:n.1693_1694delinsCA
ENST00000688922.2:c.*788_*789delinsCA	ENSP00000508742.2:n.*788_*789delinsCA
ENST00000700021.1:c.913_914delinsCA	ENSP00000514757.1:p.Leu305Gln
ENST00000700022.1:c.*297_*298delinsCA	ENSP00000514758.1:n.*297_*298delinsCA
ENST00000700023.1:n.2116_2117delinsCA
ENST00000700024.1:n.2350_2351delinsCA
ENST00000700025.1:n.1727_1728delinsCA
ENST00000700026.1:n.595_596delinsCA
ENST00000706954.1:c.958_959delinsCA	ENSP00000516674.1:p.Leu320Gln
ENST00000706955.1:c.*993_*994delinsCA	ENSP00000516675.1:n.*993_*994delinsCA
ENST00000686459.1:c.*544_*545delinsCA	ENSP00000508909.1:n.*544_*545delinsCA
ENST00000688158.1:c.*1069_*1070delinsCA	ENSP00000509254.1:n.*1069_*1070delinsCA
ENST00000688308.1:c.958_959delinsCA	ENSP00000508752.1:p.Leu320Gln
ENST00000688922.1:c.879_880delinsCA
ENST00000693560.1:c.1477_1478delinsCA	ENSP00000509861.1:p.Leu493Gln
ENST00000371953.8:c.958_959delinsCA MANE Select	ENSP00000361021.3:p.Leu320Gln
ENST00000371953.7:c.958_959delinsCA	ENSP00000361021.3:p.Leu320Gln
ENST00000472832.2:c.385_386delinsCA	ENSP00000483066.1:p.Leu129Gln
NM_000314.5:c.958_959delinsCA	NP_000305.3:p.Leu320Gln
NM_000314.6:c.958_959delinsCA	NP_000305.3:p.Leu320Gln
NM_001304717.2:c.1477_1478delinsCA	NP_001291646.2:p.Leu493Gln
NM_001304718.1:c.367_368delinsCA	NP_001291647.1:p.Leu123Gln
XM_006717926.2:c.913_914delinsCA	XP_006717989.1:p.Leu305Gln
XM_011539981.1:c.958_959delinsCA	XP_011538283.1:p.Leu320Gln
XM_011539982.1:c.862_863delinsCA	XP_011538284.1:p.Leu288Gln
XR_945791.1:n.1528_1529delinsCA
NM_000314.7:c.958_959delinsCA	NP_000305.3:p.Leu320Gln
NM_001304717.5:c.1477_1478delinsCA	NP_001291646.4:p.Leu493Gln
NM_001304718.2:c.367_368delinsCA	NP_001291647.1:p.Leu123Gln
NM_000314.8:c.958_959delinsCA MANE Select	NP_000305.3:p.Leu320Gln