Canonical Allele Identifier: CA891835892
Community Standard Title: NM_000314.8(PTEN):c.41_42delinsAA (p.Arg14Lys)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864510_87864511delinsAA , CM000672.2:g.87864510_87864511delinsAA GRCh38
NC_000010.10:g.89624267_89624268delinsAA , CM000672.1:g.89624267_89624268delinsAA GRCh37
NC_000010.9:g.89614247_89614248delinsAA NCBI36
NG_007466.2:g.6072_6073delinsAA , LRG_311:g.6072_6073delinsAA
NG_033079.1:g.3927_3928delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.41_42delinsAA MANE Select NP_000305.3:p.Arg14Lys
ENST00000371953.8:c.41_42delinsAA MANE Select ENSP00000361021.3:p.Arg14Lys
NM_000314.5:c.41_42delinsAA NP_000305.3:p.Arg14Lys
NM_000314.6:c.41_42delinsAA NP_000305.3:p.Arg14Lys
NM_000314.7:c.41_42delinsAA NP_000305.3:p.Arg14Lys
NM_001304717.2:c.560_561delinsAA NP_001291646.2:p.Arg187Lys
NM_001304717.5:c.560_561delinsAA NP_001291646.4:p.Arg187Lys
NM_001304718.1:c.-665_-664delinsAA NP_001291647.1:n.-665_-664delinsAA
NM_001304718.2:c.-665_-664delinsAA NP_001291647.1:n.-665_-664delinsAA
ENST00000371953.7:c.41_42delinsAA ENSP00000361021.3:p.Arg14Lys
ENST00000462694.1:n.43_44delinsAA
ENST00000472832.3:c.41_42delinsAA ENSP00000483066.2:p.Arg14Lys
ENST00000487939.1:n.62_63delinsAA
ENST00000610634.1:c.-62_-61delinsAA ENSP00000477517.1:n.-62_-61delinsAA
ENST00000618586.1:n.10_11delinsAA
ENST00000686459.1:c.41_42delinsAA ENSP00000508909.1:p.Arg14Lys
ENST00000688158.1:c.41_42delinsAA ENSP00000509254.1:p.Arg14Lys
ENST00000688308.1:c.41_42delinsAA ENSP00000508752.1:p.Arg14Lys
ENST00000688922.2:c.41_42delinsAA ENSP00000508742.2:p.Arg14Lys
ENST00000693560.1:c.560_561delinsAA ENSP00000509861.1:p.Arg187Lys
ENST00000700021.1:c.41_42delinsAA ENSP00000514757.1:p.Arg14Lys
ENST00000700022.1:c.41_42delinsAA ENSP00000514758.1:p.Arg14Lys
ENST00000700029.2:c.41_42delinsAA ENSP00000514759.2:p.Arg14Lys
ENST00000706954.1:c.41_42delinsAA ENSP00000516674.1:p.Arg14Lys
ENST00000706955.1:c.41_42delinsAA ENSP00000516675.1:p.Arg14Lys
ENST00000710265.1:c.41_42delinsAA ENSP00000518161.1:p.Arg14Lys
XM_006717926.2:c.41_42delinsAA XP_006717989.1:p.Arg14Lys
XM_011539981.1:c.41_42delinsAA XP_011538283.1:p.Arg14Lys
XR_945789.1:n.753_754delinsAA
XR_945790.1:n.753_754delinsAA
XR_945791.1:n.753_754delinsAA