Canonical Allele Identifier: CA2579927121
Community Standard Title: NM_000314.8(PTEN):c.186_188del (p.Lys62del)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925534_87925536del , CM000672.2:g.87925534_87925536del GRCh38
NC_000010.10:g.89685291_89685293del , CM000672.1:g.89685291_89685293del GRCh37
NC_000010.9:g.89675271_89675273del NCBI36
NG_007466.2:g.67096_67098del , LRG_311:g.67096_67098del

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.186_188del MANE Select NP_000305.3:p.Lys62del
ENST00000371953.8:c.186_188del MANE Select ENSP00000361021.3:p.Lys62del
NM_000314.5:c.186_188del NP_000305.3:p.Lys62del
NM_000314.6:c.186_188del NP_000305.3:p.Lys62del
NM_000314.7:c.186_188del NP_000305.3:p.Lys62del
NM_001304717.2:c.705_707del NP_001291646.2:p.Lys235del
NM_001304717.5:c.705_707del NP_001291646.4:p.Lys235del
NM_001304718.1:c.-541-5512_-541-5510del NP_001291647.1:n.-541-5512_-541-5510del
NM_001304718.2:c.-541-5512_-541-5510del NP_001291647.1:n.-541-5512_-541-5510del
ENST00000371953.7:c.186_188del ENSP00000361021.3:p.Lys62del
ENST00000472832.3:c.186_188del ENSP00000483066.2:p.Lys62del
ENST00000498703.1:n.12_14del
ENST00000610634.1:c.84_86del ENSP00000477517.1:p.Lys28del
ENST00000686459.1:c.186_188del ENSP00000508909.1:p.Lys62del
ENST00000688158.1:c.*297_*299del ENSP00000509254.1:n.*297_*299del
ENST00000688158.2:n.921_923del
ENST00000688308.1:c.186_188del ENSP00000508752.1:p.Lys62del
ENST00000688922.1:c.55_57del
ENST00000688922.2:c.186_188del ENSP00000508742.2:p.Lys62del
ENST00000693560.1:c.705_707del ENSP00000509861.1:p.Lys235del
ENST00000700021.1:c.165-5512_165-5510del ENSP00000514757.1:n.165-5512_165-5510del
ENST00000700022.1:c.186_188del ENSP00000514758.1:p.Lys62del
ENST00000700029.1:c.20_22del
ENST00000700029.2:c.186_188del ENSP00000514759.2:p.Lys62del
ENST00000706954.1:c.186_188del ENSP00000516674.1:p.Lys62del
ENST00000706955.1:c.*221_*223del ENSP00000516675.1:n.*221_*223del
ENST00000710265.1:c.186_188del ENSP00000518161.1:p.Lys62del
XM_006717926.2:c.165-5512_165-5510del XP_006717989.1:n.165-5512_165-5510del
XM_011539981.1:c.186_188del XP_011538283.1:p.Lys62del
XM_011539982.1:c.90_92del XP_011538284.1:p.Lys30del
XR_945789.1:n.898_900del
XR_945790.1:n.898_900del
XR_945791.1:n.898_900del