Canonical Allele Identifier: CA2573145760
Community Standard Title: NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957877_87957878dup , CM000672.2:g.87957877_87957878dup GRCh38
NC_000010.10:g.89717634_89717635dup , CM000672.1:g.89717634_89717635dup GRCh37
NC_000010.9:g.89707614_89707615dup NCBI36
NG_007466.2:g.99439_99440dup , LRG_311:g.99439_99440dup

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.659_660dup MANE Select NP_000305.3:p.Lys221Ter
ENST00000371953.8:c.659_660dup MANE Select ENSP00000361021.3:p.Lys221Ter
NM_000314.5:c.659_660dup NP_000305.3:p.Lys221Ter
NM_000314.6:c.659_660dup NP_000305.3:p.Lys221Ter
NM_000314.7:c.659_660dup NP_000305.3:p.Lys221Ter
NM_001304717.2:c.1178_1179dup NP_001291646.2:p.Lys394Ter
NM_001304717.5:c.1178_1179dup NP_001291646.4:p.Lys394Ter
NM_001304718.1:c.68_69dup NP_001291647.1:p.Lys24Ter
NM_001304718.2:c.68_69dup NP_001291647.1:p.Lys24Ter
ENST00000371953.7:c.659_660dup ENSP00000361021.3:p.Lys221Ter
ENST00000472832.2:c.86_87dup ENSP00000483066.1:p.Lys30Ter
ENST00000472832.3:c.659_660dup ENSP00000483066.2:p.Lys221Ter
ENST00000686459.1:c.*245_*246dup ENSP00000508909.1:n.*245_*246dup
ENST00000688158.1:c.*770_*771dup ENSP00000509254.1:n.*770_*771dup
ENST00000688158.2:n.1394_1395dup
ENST00000688308.1:c.659_660dup ENSP00000508752.1:p.Lys221Ter
ENST00000688922.1:c.580_581dup
ENST00000688922.2:c.*489_*490dup ENSP00000508742.2:n.*489_*490dup
ENST00000693560.1:c.1178_1179dup ENSP00000509861.1:p.Lys394Ter
ENST00000700021.1:c.614_615dup ENSP00000514757.1:p.Lys206Ter
ENST00000700022.1:c.517_518dup ENSP00000514758.1:p.Ter173TyrextTer23
ENST00000700023.1:n.1817_1818dup
ENST00000700024.1:n.2051_2052dup
ENST00000700025.1:n.1428_1429dup
ENST00000700026.1:n.296_297dup
ENST00000700029.1:c.493_494dup
ENST00000700029.2:c.659_660dup ENSP00000514759.2:p.Lys221Ter
ENST00000706954.1:c.659_660dup ENSP00000516674.1:p.Lys221Ter
ENST00000706955.1:c.*694_*695dup ENSP00000516675.1:n.*694_*695dup
ENST00000710265.1:c.659_660dup ENSP00000518161.1:p.Lys221Ter
XM_006717926.2:c.614_615dup XP_006717989.1:p.Lys206Ter
XM_011539981.1:c.659_660dup XP_011538283.1:p.Lys221Ter
XM_011539982.1:c.563_564dup XP_011538284.1:p.Lys189Ter
XR_945791.1:n.1229_1230dup