Canonical Allele Identifier: CA913203497

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933148_87933248del , CM000672.2:g.87933148_87933248del	GRCh38
NC_000010.10:g.89692905_89693005del , CM000672.1:g.89692905_89693005del	GRCh37
NC_000010.9:g.89682885_89682985del	NCBI36
NG_007466.2:g.74710_74810del , LRG_311:g.74710_74810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.389_489del	ENSP00000514759.2:p.Arg130GlnfsTer16
ENST00000710265.1:c.389_489del	ENSP00000518161.1:p.Arg130GlnfsTer16
ENST00000472832.3:c.389_489del	ENSP00000483066.2:p.Arg130GlnfsTer16
ENST00000688158.2:n.1124_1224del
ENST00000688922.2:c.*219_*319del	ENSP00000508742.2:n.*219_*319del
ENST00000700021.1:c.344_444del	ENSP00000514757.1:p.Arg115GlnfsTer16
ENST00000700022.1:c.389_489del	ENSP00000514758.1:p.Arg130GlnfsTer?
ENST00000700029.1:c.223_323del
ENST00000706954.1:c.389_489del	ENSP00000516674.1:p.Arg130GlnfsTer16
ENST00000706955.1:c.*424_*524del	ENSP00000516675.1:n.*424_*524del
ENST00000686459.1:c.389_489del	ENSP00000508909.1:p.Arg130GlnfsTer11
ENST00000688158.1:c.*500_*600del	ENSP00000509254.1:n.*500_*600del
ENST00000688308.1:c.389_489del	ENSP00000508752.1:p.Arg130GlnfsTer16
ENST00000688922.1:c.310_410del
ENST00000693560.1:c.908_1008del	ENSP00000509861.1:p.Arg303GlnfsTer16
ENST00000371953.8:c.389_489del MANE Select	ENSP00000361021.3:p.Arg130GlnfsTer16
ENST00000371953.7:c.389_489del	ENSP00000361021.3:p.Arg130GlnfsTer16
ENST00000498703.1:n.215_315del
ENST00000610634.1:c.287_387del	ENSP00000477517.1:p.Arg96GlnfsTer11
NM_000314.5:c.389_489del	NP_000305.3:p.Arg130GlnfsTer16
NM_000314.6:c.389_489del	NP_000305.3:p.Arg130GlnfsTer16
NM_001304717.2:c.908_1008del	NP_001291646.2:p.Arg303GlnfsTer16
NM_001304718.1:c.-362_-262del	NP_001291647.1:n.-362_-262del
XM_006717926.2:c.344_444del	XP_006717989.1:p.Arg115GlnfsTer16
XM_011539981.1:c.389_489del	XP_011538283.1:p.Arg130GlnfsTer16
XM_011539982.1:c.293_393del	XP_011538284.1:p.Arg98GlnfsTer16
XR_945789.1:n.1101_1201del
XR_945790.1:n.1101_1201del
XR_945791.1:n.1101_1201del
NM_000314.7:c.389_489del	NP_000305.3:p.Arg130GlnfsTer16
NM_001304717.5:c.908_1008del	NP_001291646.4:p.Arg303GlnfsTer16
NM_001304718.2:c.-362_-262del	NP_001291647.1:n.-362_-262del
NM_000314.8:c.389_489del MANE Select	NP_000305.3:p.Arg130GlnfsTer16