Canonical Allele Identifier: CA891835342
Community Standard Title: NM_000314.8(PTEN):c.142_144delinsTCT (p.Asn48Ser)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894087_87894089delinsTCT , CM000672.2:g.87894087_87894089delinsTCT GRCh38
NC_000010.10:g.89653844_89653846delinsTCT , CM000672.1:g.89653844_89653846delinsTCT GRCh37
NC_000010.9:g.89643824_89643826delinsTCT NCBI36
NG_007466.2:g.35649_35651delinsTCT , LRG_311:g.35649_35651delinsTCT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.142_144delinsTCT MANE Select NP_000305.3:p.Asn48Ser
ENST00000371953.8:c.142_144delinsTCT MANE Select ENSP00000361021.3:p.Asn48Ser
NM_000314.5:c.142_144delinsTCT NP_000305.3:p.Asn48Ser
NM_000314.6:c.142_144delinsTCT NP_000305.3:p.Asn48Ser
NM_000314.7:c.142_144delinsTCT NP_000305.3:p.Asn48Ser
NM_001304717.2:c.661_663delinsTCT NP_001291646.2:p.Asn221Ser
NM_001304717.5:c.661_663delinsTCT NP_001291646.4:p.Asn221Ser
NM_001304718.1:c.-564_-562delinsTCT NP_001291647.1:n.-564_-562delinsTCT
NM_001304718.2:c.-564_-562delinsTCT NP_001291647.1:n.-564_-562delinsTCT
ENST00000371953.7:c.142_144delinsTCT ENSP00000361021.3:p.Asn48Ser
ENST00000462694.1:n.144_146delinsTCT
ENST00000472832.3:c.142_144delinsTCT ENSP00000483066.2:p.Asn48Ser
ENST00000610634.1:c.40_42delinsTCT ENSP00000477517.1:p.Asn14Ser
ENST00000686459.1:c.142_144delinsTCT ENSP00000508909.1:p.Asn48Ser
ENST00000688158.1:c.*275+13649_*275+13651delinsTCT ENSP00000509254.1:n.*275+13649_*275+13651delinsTCT
ENST00000688158.2:n.899+13649_899+13651delinsTCT
ENST00000688308.1:c.142_144delinsTCT ENSP00000508752.1:p.Asn48Ser
ENST00000688922.1:c.11_13delinsTCT
ENST00000688922.2:c.142_144delinsTCT ENSP00000508742.2:p.Asn48Ser
ENST00000693560.1:c.661_663delinsTCT ENSP00000509861.1:p.Asn221Ser
ENST00000700021.1:c.142_144delinsTCT ENSP00000514757.1:p.Asn48Ser
ENST00000700022.1:c.142_144delinsTCT ENSP00000514758.1:p.Asn48Ser
ENST00000700029.2:c.142_144delinsTCT ENSP00000514759.2:p.Asn48Ser
ENST00000706954.1:c.142_144delinsTCT ENSP00000516674.1:p.Asn48Ser
ENST00000706955.1:c.*177_*179delinsTCT ENSP00000516675.1:n.*177_*179delinsTCT
ENST00000710265.1:c.142_144delinsTCT ENSP00000518161.1:p.Asn48Ser
XM_006717926.2:c.142_144delinsTCT XP_006717989.1:p.Asn48Ser
XM_011539981.1:c.142_144delinsTCT XP_011538283.1:p.Asn48Ser
XM_011539982.1:c.68+13649_68+13651delinsTCT XP_011538284.1:n.68+13649_68+13651delinsTCT
XR_945789.1:n.854_856delinsTCT
XR_945790.1:n.854_856delinsTCT
XR_945791.1:n.854_856delinsTCT