Canonical Allele Identifier: CA891839355

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957865_87957866delinsCT , CM000672.2:g.87957865_87957866delinsCT	GRCh38
NC_000010.10:g.89717622_89717623delinsCT , CM000672.1:g.89717622_89717623delinsCT	GRCh37
NC_000010.9:g.89707602_89707603delinsCT	NCBI36
NG_007466.2:g.99427_99428delinsCT , LRG_311:g.99427_99428delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.647_648delinsCT	ENSP00000514759.2:p.Val216Ala
ENST00000710265.1:c.647_648delinsCT	ENSP00000518161.1:p.Val216Ala
ENST00000472832.3:c.647_648delinsCT	ENSP00000483066.2:p.Val216Ala
ENST00000688158.2:n.1382_1383delinsCT
ENST00000688922.2:c.*477_*478delinsCT	ENSP00000508742.2:n.*477_*478delinsCT
ENST00000700021.1:c.602_603delinsCT	ENSP00000514757.1:p.Val201Ala
ENST00000700022.1:c.505_506delinsCT	ENSP00000514758.1:p.Trp169Leu
ENST00000700023.1:n.1805_1806delinsCT
ENST00000700024.1:n.2039_2040delinsCT
ENST00000700025.1:n.1416_1417delinsCT
ENST00000700026.1:n.284_285delinsCT
ENST00000700029.1:c.481_482delinsCT
ENST00000706954.1:c.647_648delinsCT	ENSP00000516674.1:p.Val216Ala
ENST00000706955.1:c.*682_*683delinsCT	ENSP00000516675.1:n.*682_*683delinsCT
ENST00000686459.1:c.*233_*234delinsCT	ENSP00000508909.1:n.*233_*234delinsCT
ENST00000688158.1:c.*758_*759delinsCT	ENSP00000509254.1:n.*758_*759delinsCT
ENST00000688308.1:c.647_648delinsCT	ENSP00000508752.1:p.Val216Ala
ENST00000688922.1:c.568_569delinsCT
ENST00000693560.1:c.1166_1167delinsCT	ENSP00000509861.1:p.Val389Ala
ENST00000371953.8:c.647_648delinsCT MANE Select	ENSP00000361021.3:p.Val216Ala
ENST00000371953.7:c.647_648delinsCT	ENSP00000361021.3:p.Val216Ala
ENST00000472832.2:c.74_75delinsCT	ENSP00000483066.1:p.Val25Ala
NM_000314.5:c.647_648delinsCT	NP_000305.3:p.Val216Ala
NM_000314.6:c.647_648delinsCT	NP_000305.3:p.Val216Ala
NM_001304717.2:c.1166_1167delinsCT	NP_001291646.2:p.Val389Ala
NM_001304718.1:c.56_57delinsCT	NP_001291647.1:p.Val19Ala
XM_006717926.2:c.602_603delinsCT	XP_006717989.1:p.Val201Ala
XM_011539981.1:c.647_648delinsCT	XP_011538283.1:p.Val216Ala
XM_011539982.1:c.551_552delinsCT	XP_011538284.1:p.Val184Ala
XR_945791.1:n.1217_1218delinsCT
NM_000314.7:c.647_648delinsCT	NP_000305.3:p.Val216Ala
NM_001304717.5:c.1166_1167delinsCT	NP_001291646.4:p.Val389Ala
NM_001304718.2:c.56_57delinsCT	NP_001291647.1:p.Val19Ala
NM_000314.8:c.647_648delinsCT MANE Select	NP_000305.3:p.Val216Ala