Canonical Allele Identifier: CA891838854
Community Standard Title: NM_000314.8(PTEN):c.542_543delinsCA (p.Leu181Pro)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952167_87952168delinsCA , CM000672.2:g.87952167_87952168delinsCA GRCh38
NC_000010.10:g.89711924_89711925delinsCA , CM000672.1:g.89711924_89711925delinsCA GRCh37
NC_000010.9:g.89701904_89701905delinsCA NCBI36
NG_007466.2:g.93729_93730delinsCA , LRG_311:g.93729_93730delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.542_543delinsCA MANE Select NP_000305.3:p.Leu181Pro
ENST00000371953.8:c.542_543delinsCA MANE Select ENSP00000361021.3:p.Leu181Pro
NM_000314.5:c.542_543delinsCA NP_000305.3:p.Leu181Pro
NM_000314.6:c.542_543delinsCA NP_000305.3:p.Leu181Pro
NM_000314.7:c.542_543delinsCA NP_000305.3:p.Leu181Pro
NM_001304717.2:c.1061_1062delinsCA NP_001291646.2:p.Leu354Pro
NM_001304717.5:c.1061_1062delinsCA NP_001291646.4:p.Leu354Pro
NM_001304718.1:c.-50_-49delinsCA NP_001291647.1:n.-50_-49delinsCA
NM_001304718.2:c.-50_-49delinsCA NP_001291647.1:n.-50_-49delinsCA
ENST00000371953.7:c.542_543delinsCA ENSP00000361021.3:p.Leu181Pro
ENST00000472832.3:c.542_543delinsCA ENSP00000483066.2:p.Leu181Pro
ENST00000686459.1:c.*128_*129delinsCA ENSP00000508909.1:n.*128_*129delinsCA
ENST00000688158.1:c.*653_*654delinsCA ENSP00000509254.1:n.*653_*654delinsCA
ENST00000688158.2:n.1277_1278delinsCA
ENST00000688308.1:c.542_543delinsCA ENSP00000508752.1:p.Leu181Pro
ENST00000688922.1:c.463_464delinsCA
ENST00000688922.2:c.*372_*373delinsCA ENSP00000508742.2:n.*372_*373delinsCA
ENST00000693560.1:c.1061_1062delinsCA ENSP00000509861.1:p.Leu354Pro
ENST00000700021.1:c.497_498delinsCA ENSP00000514757.1:p.Leu166Pro
ENST00000700022.1:c.493-5686_493-5685delinsCA ENSP00000514758.1:n.493-5686_493-5685delinsCA
ENST00000700023.1:n.1700_1701delinsCA
ENST00000700024.1:n.1934_1935delinsCA
ENST00000700025.1:n.1311_1312delinsCA
ENST00000700029.1:c.376_377delinsCA
ENST00000700029.2:c.542_543delinsCA ENSP00000514759.2:p.Leu181Pro
ENST00000706954.1:c.542_543delinsCA ENSP00000516674.1:p.Leu181Pro
ENST00000706955.1:c.*577_*578delinsCA ENSP00000516675.1:n.*577_*578delinsCA
ENST00000710265.1:c.542_543delinsCA ENSP00000518161.1:p.Leu181Pro
XM_006717926.2:c.497_498delinsCA XP_006717989.1:p.Leu166Pro
XM_011539981.1:c.542_543delinsCA XP_011538283.1:p.Leu181Pro
XM_011539982.1:c.446_447delinsCA XP_011538284.1:p.Leu149Pro
XR_945789.1:n.1413_1414delinsCA
XR_945790.1:n.1530_1531delinsCA
XR_945791.1:n.1205-5686_1205-5685delinsCA