Canonical Allele Identifier: CA2579926828

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957864_87957866delinsAGA , CM000672.2:g.87957864_87957866delinsAGA	GRCh38
NC_000010.10:g.89717621_89717623delinsAGA , CM000672.1:g.89717621_89717623delinsAGA	GRCh37
NC_000010.9:g.89707601_89707603delinsAGA	NCBI36
NG_007466.2:g.99426_99428delinsAGA , LRG_311:g.99426_99428delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.646_648delinsAGA	ENSP00000514759.2:p.Val216Arg
ENST00000710265.1:c.646_648delinsAGA	ENSP00000518161.1:p.Val216Arg
ENST00000472832.3:c.646_648delinsAGA	ENSP00000483066.2:p.Val216Arg
ENST00000688158.2:n.1381_1383delinsAGA
ENST00000688922.2:c.*476_*478delinsAGA	ENSP00000508742.2:n.*476_*478delinsAGA
ENST00000700021.1:c.601_603delinsAGA	ENSP00000514757.1:p.Val201Arg
ENST00000700022.1:c.504_506delinsAGA	ENSP00000514758.1:p.Trp169Glu
ENST00000700023.1:n.1804_1806delinsAGA
ENST00000700024.1:n.2038_2040delinsAGA
ENST00000700025.1:n.1415_1417delinsAGA
ENST00000700026.1:n.283_285delinsAGA
ENST00000700029.1:c.480_482delinsAGA
ENST00000706954.1:c.646_648delinsAGA	ENSP00000516674.1:p.Val216Arg
ENST00000706955.1:c.*681_*683delinsAGA	ENSP00000516675.1:n.*681_*683delinsAGA
ENST00000686459.1:c.*232_*234delinsAGA	ENSP00000508909.1:n.*232_*234delinsAGA
ENST00000688158.1:c.*757_*759delinsAGA	ENSP00000509254.1:n.*757_*759delinsAGA
ENST00000688308.1:c.646_648delinsAGA	ENSP00000508752.1:p.Val216Arg
ENST00000688922.1:c.567_569delinsAGA
ENST00000693560.1:c.1165_1167delinsAGA	ENSP00000509861.1:p.Val389Arg
ENST00000371953.8:c.646_648delinsAGA MANE Select	ENSP00000361021.3:p.Val216Arg
ENST00000371953.7:c.646_648delinsAGA	ENSP00000361021.3:p.Val216Arg
ENST00000472832.2:c.73_75delinsAGA	ENSP00000483066.1:p.Val25Arg
NM_000314.5:c.646_648delinsAGA	NP_000305.3:p.Val216Arg
NM_000314.6:c.646_648delinsAGA	NP_000305.3:p.Val216Arg
NM_001304717.2:c.1165_1167delinsAGA	NP_001291646.2:p.Val389Arg
NM_001304718.1:c.55_57delinsAGA	NP_001291647.1:p.Val19Arg
XM_006717926.2:c.601_603delinsAGA	XP_006717989.1:p.Val201Arg
XM_011539981.1:c.646_648delinsAGA	XP_011538283.1:p.Val216Arg
XM_011539982.1:c.550_552delinsAGA	XP_011538284.1:p.Val184Arg
XR_945791.1:n.1216_1218delinsAGA
NM_000314.7:c.646_648delinsAGA	NP_000305.3:p.Val216Arg
NM_001304717.5:c.1165_1167delinsAGA	NP_001291646.4:p.Val389Arg
NM_001304718.2:c.55_57delinsAGA	NP_001291647.1:p.Val19Arg
NM_000314.8:c.646_648delinsAGA MANE Select	NP_000305.3:p.Val216Arg