Canonical Allele Identifier: CA658797507
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 503733
ClinVar RCV Id: RCV000598869
dbSNP Id: rs1554890001

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863690_87863705dup , CM000672.2:g.87863690_87863705dup GRCh38
NC_000010.10:g.89623447_89623462dup , CM000672.1:g.89623447_89623462dup GRCh37
NC_000010.9:g.89613427_89613442dup NCBI36
NG_007466.2:g.5253_5268dup , LRG_311:g.5253_5268dup
NG_033079.1:g.4741_4756dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-780_-765dup ENSP00000514759.2:n.-780_-765dup
ENST00000710265.1:c.-780_-765dup ENSP00000518161.1:n.-780_-765dup
ENST00000706954.1:c.-16-764_-16-749dup ENSP00000516674.1:n.-16-764_-16-749dup
ENST00000706955.1:c.-780_-765dup ENSP00000516675.1:n.-780_-765dup
ENST00000688158.1:c.-780_-765dup ENSP00000509254.1:n.-780_-765dup
ENST00000688308.1:c.-17+577_-17+592dup ENSP00000508752.1:n.-17+577_-17+592dup
ENST00000693560.1:c.-260_-245dup ENSP00000509861.1:n.-260_-245dup
ENST00000371953.8:c.-780_-765dup MANE Select ENSP00000361021.3:n.-780_-765dup
ENST00000371953.7:c.-780_-765dup ENSP00000361021.3:n.-780_-765dup
ENST00000610634.1:c.-882_-867dup ENSP00000477517.1:n.-882_-867dup
NM_000314.5:c.-779_-764dup NP_000305.3:n.-779_-764dup
NM_000314.6:c.-779_-764dup NP_000305.3:n.-779_-764dup
NM_001304717.2:c.-260_-245dup NP_001291646.2:n.-260_-245dup
NM_001304718.1:c.-1484_-1469dup NP_001291647.1:n.-1484_-1469dup
NM_000314.7:c.-779_-764dup NP_000305.3:n.-779_-764dup
NM_001304717.5:c.-260_-245dup NP_001291646.4:n.-260_-245dup
NM_001304718.2:c.-1484_-1469dup NP_001291647.1:n.-1484_-1469dup
NM_000314.8:c.-780_-765dup MANE Select NP_000305.3:n.-780_-765dup