Canonical Allele Identifier: CA891839354

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957865_87957866delinsAA , CM000672.2:g.87957865_87957866delinsAA	GRCh38
NC_000010.10:g.89717622_89717623delinsAA , CM000672.1:g.89717622_89717623delinsAA	GRCh37
NC_000010.9:g.89707602_89707603delinsAA	NCBI36
NG_007466.2:g.99427_99428delinsAA , LRG_311:g.99427_99428delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.647_648delinsAA	ENSP00000514759.2:p.Val216Glu
ENST00000710265.1:c.647_648delinsAA	ENSP00000518161.1:p.Val216Glu
ENST00000472832.3:c.647_648delinsAA	ENSP00000483066.2:p.Val216Glu
ENST00000688158.2:n.1382_1383delinsAA
ENST00000688922.2:c.*477_*478delinsAA	ENSP00000508742.2:n.*477_*478delinsAA
ENST00000700021.1:c.602_603delinsAA	ENSP00000514757.1:p.Val201Glu
ENST00000700022.1:c.505_506delinsAA	ENSP00000514758.1:p.Trp169Lys
ENST00000700023.1:n.1805_1806delinsAA
ENST00000700024.1:n.2039_2040delinsAA
ENST00000700025.1:n.1416_1417delinsAA
ENST00000700026.1:n.284_285delinsAA
ENST00000700029.1:c.481_482delinsAA
ENST00000706954.1:c.647_648delinsAA	ENSP00000516674.1:p.Val216Glu
ENST00000706955.1:c.*682_*683delinsAA	ENSP00000516675.1:n.*682_*683delinsAA
ENST00000686459.1:c.*233_*234delinsAA	ENSP00000508909.1:n.*233_*234delinsAA
ENST00000688158.1:c.*758_*759delinsAA	ENSP00000509254.1:n.*758_*759delinsAA
ENST00000688308.1:c.647_648delinsAA	ENSP00000508752.1:p.Val216Glu
ENST00000688922.1:c.568_569delinsAA
ENST00000693560.1:c.1166_1167delinsAA	ENSP00000509861.1:p.Val389Glu
ENST00000371953.8:c.647_648delinsAA MANE Select	ENSP00000361021.3:p.Val216Glu
ENST00000371953.7:c.647_648delinsAA	ENSP00000361021.3:p.Val216Glu
ENST00000472832.2:c.74_75delinsAA	ENSP00000483066.1:p.Val25Glu
NM_000314.5:c.647_648delinsAA	NP_000305.3:p.Val216Glu
NM_000314.6:c.647_648delinsAA	NP_000305.3:p.Val216Glu
NM_001304717.2:c.1166_1167delinsAA	NP_001291646.2:p.Val389Glu
NM_001304718.1:c.56_57delinsAA	NP_001291647.1:p.Val19Glu
XM_006717926.2:c.602_603delinsAA	XP_006717989.1:p.Val201Glu
XM_011539981.1:c.647_648delinsAA	XP_011538283.1:p.Val216Glu
XM_011539982.1:c.551_552delinsAA	XP_011538284.1:p.Val184Glu
XR_945791.1:n.1217_1218delinsAA
NM_000314.7:c.647_648delinsAA	NP_000305.3:p.Val216Glu
NM_001304717.5:c.1166_1167delinsAA	NP_001291646.4:p.Val389Glu
NM_001304718.2:c.56_57delinsAA	NP_001291647.1:p.Val19Glu
NM_000314.8:c.647_648delinsAA MANE Select	NP_000305.3:p.Val216Glu