Canonical Allele Identifier: CA000560
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189450
ClinVar RCV Id: RCV000169843 RCV002243839
dbSNP Id: rs786204902
MyVariant Identifiers: chr10:g.89717714_89717715insAT (hg19) chr10:g.87957957_87957958insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957957_87957958insAT , CM000672.2:g.87957957_87957958insAT GRCh38
NC_000010.10:g.89717714_89717715insAT , CM000672.1:g.89717714_89717715insAT GRCh37
NC_000010.9:g.89707694_89707695insAT NCBI36
NG_007466.2:g.99519_99520insAT , LRG_311:g.99519_99520insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.739_740insAT ENSP00000514759.2:p.Leu247TyrfsTer10
ENST00000710265.1:c.739_740insAT ENSP00000518161.1:p.Leu247TyrfsTer10
ENST00000472832.3:c.739_740insAT ENSP00000483066.2:p.Leu247TyrfsTer10
ENST00000688158.2:n.1474_1475insAT
ENST00000688922.2:c.*569_*570insAT ENSP00000508742.2:n.*569_*570insAT
ENST00000700021.1:c.694_695insAT ENSP00000514757.1:p.Leu232TyrfsTer10
ENST00000700022.1:c.*78_*79insAT ENSP00000514758.1:n.*78_*79insAT
ENST00000700023.1:n.1897_1898insAT
ENST00000700024.1:n.2131_2132insAT
ENST00000700025.1:n.1508_1509insAT
ENST00000700026.1:n.376_377insAT
ENST00000700029.1:c.573_574insAT
ENST00000706954.1:c.739_740insAT ENSP00000516674.1:p.Leu247TyrfsTer10
ENST00000706955.1:c.*774_*775insAT ENSP00000516675.1:n.*774_*775insAT
ENST00000686459.1:c.*325_*326insAT ENSP00000508909.1:n.*325_*326insAT
ENST00000688158.1:c.*850_*851insAT ENSP00000509254.1:n.*850_*851insAT
ENST00000688308.1:c.739_740insAT ENSP00000508752.1:p.Leu247TyrfsTer10
ENST00000688922.1:c.660_661insAT
ENST00000693560.1:c.1258_1259insAT ENSP00000509861.1:p.Leu420TyrfsTer10
ENST00000371953.8:c.739_740insAT MANE Select ENSP00000361021.3:p.Leu247TyrfsTer10
ENST00000371953.7:c.739_740insAT ENSP00000361021.3:p.Leu247TyrfsTer10
ENST00000472832.2:c.166_167insAT ENSP00000483066.1:p.Leu56TyrfsTer10
NM_000314.5:c.739_740insAT NP_000305.3:p.Leu247TyrfsTer10
NM_000314.6:c.739_740insAT NP_000305.3:p.Leu247TyrfsTer10
NM_001304717.2:c.1258_1259insAT NP_001291646.2:p.Leu420TyrfsTer10
NM_001304718.1:c.148_149insAT NP_001291647.1:p.Leu50TyrfsTer10
XM_006717926.2:c.694_695insAT XP_006717989.1:p.Leu232TyrfsTer10
XM_011539981.1:c.739_740insAT XP_011538283.1:p.Leu247TyrfsTer10
XM_011539982.1:c.643_644insAT XP_011538284.1:p.Leu215TyrfsTer10
XR_945791.1:n.1309_1310insAT
NM_000314.7:c.739_740insAT NP_000305.3:p.Leu247TyrfsTer10
NM_001304717.5:c.1258_1259insAT NP_001291646.4:p.Leu420TyrfsTer10
NM_001304718.2:c.148_149insAT NP_001291647.1:p.Leu50TyrfsTer10
NM_000314.8:c.739_740insAT MANE Select NP_000305.3:p.Leu247TyrfsTer10
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