Canonical Allele Identifier: CA930920739
Gene: PTEN HGNC NCBI

Linked Data

gnomAD v3: 10-87954215-G-A
gnomAD v4: 10-87954215-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87954215G>A , CM000672.2:g.87954215G>A GRCh38
NC_000010.10:g.89713972G>A , CM000672.1:g.89713972G>A GRCh37
NC_000010.9:g.89703952G>A NCBI36
NG_007466.2:g.95777G>A , LRG_311:g.95777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.634+1956G>A ENSP00000514759.2:n.634+1956G>A
ENST00000710265.1:c.634+1956G>A ENSP00000518161.1:n.634+1956G>A
ENST00000472832.3:c.634+1956G>A ENSP00000483066.2:n.634+1956G>A
ENST00000688158.2:n.1369+1956G>A
ENST00000688922.2:c.*464+1956G>A ENSP00000508742.2:n.*464+1956G>A
ENST00000700021.1:c.589+1956G>A ENSP00000514757.1:n.589+1956G>A
ENST00000700022.1:c.493-3638G>A ENSP00000514758.1:n.493-3638G>A
ENST00000700023.1:n.1792+1956G>A
ENST00000700024.1:n.2026+1956G>A
ENST00000700025.1:n.1403+1956G>A
ENST00000700029.1:c.468+1956G>A
ENST00000706954.1:c.634+1956G>A ENSP00000516674.1:n.634+1956G>A
ENST00000706955.1:c.*669+1956G>A ENSP00000516675.1:n.*669+1956G>A
ENST00000686459.1:c.*220+1956G>A ENSP00000508909.1:n.*220+1956G>A
ENST00000688158.1:c.*745+1956G>A ENSP00000509254.1:n.*745+1956G>A
ENST00000688308.1:c.634+1956G>A ENSP00000508752.1:n.634+1956G>A
ENST00000688922.1:c.555+1956G>A
ENST00000693560.1:c.1153+1956G>A ENSP00000509861.1:n.1153+1956G>A
ENST00000371953.8:c.634+1956G>A MANE Select ENSP00000361021.3:n.634+1956G>A
ENST00000371953.7:c.634+1956G>A ENSP00000361021.3:n.634+1956G>A
ENST00000472832.2:c.61+1956G>A ENSP00000483066.1:n.61+1956G>A
NM_000314.5:c.634+1956G>A NP_000305.3:n.634+1956G>A
NM_000314.6:c.634+1956G>A NP_000305.3:n.634+1956G>A
NM_001304717.2:c.1153+1956G>A NP_001291646.2:n.1153+1956G>A
NM_001304718.1:c.43+1956G>A NP_001291647.1:n.43+1956G>A
XM_006717926.2:c.589+1956G>A XP_006717989.1:n.589+1956G>A
XM_011539981.1:c.634+1956G>A XP_011538283.1:n.634+1956G>A
XM_011539982.1:c.538+1956G>A XP_011538284.1:n.538+1956G>A
XR_945791.1:n.1205-3638G>A
NM_000314.7:c.634+1956G>A NP_000305.3:n.634+1956G>A
NM_001304717.5:c.1153+1956G>A NP_001291646.4:n.1153+1956G>A
NM_001304718.2:c.43+1956G>A NP_001291647.1:n.43+1956G>A
NM_000314.8:c.634+1956G>A MANE Select NP_000305.3:n.634+1956G>A
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