Canonical Allele Identifier: CA2695200884
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674414
ClinVar RCV Id: RCV003452610
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957957_87957960delinsGG , CM000672.2:g.87957957_87957960delinsGG GRCh38
NC_000010.10:g.89717714_89717717delinsGG , CM000672.1:g.89717714_89717717delinsGG GRCh37
NC_000010.9:g.89707694_89707697delinsGG NCBI36
NG_007466.2:g.99519_99522delinsGG , LRG_311:g.99519_99522delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.739_742delinsGG ENSP00000514759.2:p.Leu247GlyfsTer5
ENST00000710265.1:c.739_742delinsGG ENSP00000518161.1:p.Leu247GlyfsTer5
ENST00000472832.3:c.739_742delinsGG ENSP00000483066.2:p.Leu247GlyfsTer5
ENST00000688158.2:n.1474_1477delinsGG
ENST00000688922.2:c.*569_*572delinsGG ENSP00000508742.2:n.*569_*572delinsGG
ENST00000700021.1:c.694_697delinsGG ENSP00000514757.1:p.Leu232GlyfsTer5
ENST00000700022.1:c.*78_*81delinsGG ENSP00000514758.1:n.*78_*81delinsGG
ENST00000700023.1:n.1897_1900delinsGG
ENST00000700024.1:n.2131_2134delinsGG
ENST00000700025.1:n.1508_1511delinsGG
ENST00000700026.1:n.376_379delinsGG
ENST00000700029.1:c.573_576delinsGG
ENST00000706954.1:c.739_742delinsGG ENSP00000516674.1:p.Leu247GlyfsTer5
ENST00000706955.1:c.*774_*777delinsGG ENSP00000516675.1:n.*774_*777delinsGG
ENST00000686459.1:c.*325_*328delinsGG ENSP00000508909.1:n.*325_*328delinsGG
ENST00000688158.1:c.*850_*853delinsGG ENSP00000509254.1:n.*850_*853delinsGG
ENST00000688308.1:c.739_742delinsGG ENSP00000508752.1:p.Leu247GlyfsTer5
ENST00000688922.1:c.660_663delinsGG
ENST00000693560.1:c.1258_1261delinsGG ENSP00000509861.1:p.Leu420GlyfsTer5
ENST00000371953.8:c.739_742delinsGG MANE Select ENSP00000361021.3:p.Leu247GlyfsTer5
ENST00000371953.7:c.739_742delinsGG ENSP00000361021.3:p.Leu247GlyfsTer5
ENST00000472832.2:c.166_169delinsGG ENSP00000483066.1:p.Leu56GlyfsTer5
NM_000314.5:c.739_742delinsGG NP_000305.3:p.Leu247GlyfsTer5
NM_000314.6:c.739_742delinsGG NP_000305.3:p.Leu247GlyfsTer5
NM_001304717.2:c.1258_1261delinsGG NP_001291646.2:p.Leu420GlyfsTer5
NM_001304718.1:c.148_151delinsGG NP_001291647.1:p.Leu50GlyfsTer5
XM_006717926.2:c.694_697delinsGG XP_006717989.1:p.Leu232GlyfsTer5
XM_011539981.1:c.739_742delinsGG XP_011538283.1:p.Leu247GlyfsTer5
XM_011539982.1:c.643_646delinsGG XP_011538284.1:p.Leu215GlyfsTer5
XR_945791.1:n.1309_1312delinsGG
NM_000314.7:c.739_742delinsGG NP_000305.3:p.Leu247GlyfsTer5
NM_001304717.5:c.1258_1261delinsGG NP_001291646.4:p.Leu420GlyfsTer5
NM_001304718.2:c.148_151delinsGG NP_001291647.1:p.Leu50GlyfsTer5
NM_000314.8:c.739_742delinsGG MANE Select NP_000305.3:p.Leu247GlyfsTer5
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