Canonical Allele Identifier: CA2573145766
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1686108
ClinVar RCV Id: RCV002250275
dbSNP Id: rs1589663442
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957957_87957958insAGT , CM000672.2:g.87957957_87957958insAGT GRCh38
NC_000010.10:g.89717714_89717715insAGT , CM000672.1:g.89717714_89717715insAGT GRCh37
NC_000010.9:g.89707694_89707695insAGT NCBI36
NG_007466.2:g.99519_99520insAGT , LRG_311:g.99519_99520insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.739_740insAGT ENSP00000514759.2:p.Leu247Ter
ENST00000710265.1:c.739_740insAGT ENSP00000518161.1:p.Leu247Ter
ENST00000472832.3:c.739_740insAGT ENSP00000483066.2:p.Leu247Ter
ENST00000688158.2:n.1474_1475insAGT
ENST00000688922.2:c.*569_*570insAGT ENSP00000508742.2:n.*569_*570insAGT
ENST00000700021.1:c.694_695insAGT ENSP00000514757.1:p.Leu232Ter
ENST00000700022.1:c.*78_*79insAGT ENSP00000514758.1:n.*78_*79insAGT
ENST00000700023.1:n.1897_1898insAGT
ENST00000700024.1:n.2131_2132insAGT
ENST00000700025.1:n.1508_1509insAGT
ENST00000700026.1:n.376_377insAGT
ENST00000700029.1:c.573_574insAGT
ENST00000706954.1:c.739_740insAGT ENSP00000516674.1:p.Leu247Ter
ENST00000706955.1:c.*774_*775insAGT ENSP00000516675.1:n.*774_*775insAGT
ENST00000686459.1:c.*325_*326insAGT ENSP00000508909.1:n.*325_*326insAGT
ENST00000688158.1:c.*850_*851insAGT ENSP00000509254.1:n.*850_*851insAGT
ENST00000688308.1:c.739_740insAGT ENSP00000508752.1:p.Leu247Ter
ENST00000688922.1:c.660_661insAGT
ENST00000693560.1:c.1258_1259insAGT ENSP00000509861.1:p.Leu420Ter
ENST00000371953.8:c.739_740insAGT MANE Select ENSP00000361021.3:p.Leu247Ter
ENST00000371953.7:c.739_740insAGT ENSP00000361021.3:p.Leu247Ter
ENST00000472832.2:c.166_167insAGT ENSP00000483066.1:p.Leu56Ter
NM_000314.5:c.739_740insAGT NP_000305.3:p.Leu247Ter
NM_000314.6:c.739_740insAGT NP_000305.3:p.Leu247Ter
NM_001304717.2:c.1258_1259insAGT NP_001291646.2:p.Leu420Ter
NM_001304718.1:c.148_149insAGT NP_001291647.1:p.Leu50Ter
XM_006717926.2:c.694_695insAGT XP_006717989.1:p.Leu232Ter
XM_011539981.1:c.739_740insAGT XP_011538283.1:p.Leu247Ter
XM_011539982.1:c.643_644insAGT XP_011538284.1:p.Leu215Ter
XR_945791.1:n.1309_1310insAGT
NM_000314.7:c.739_740insAGT NP_000305.3:p.Leu247Ter
NM_001304717.5:c.1258_1259insAGT NP_001291646.4:p.Leu420Ter
NM_001304718.2:c.148_149insAGT NP_001291647.1:p.Leu50Ter
NM_000314.8:c.739_740insAGT MANE Select NP_000305.3:p.Leu247Ter
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