Canonical Allele Identifier: CA2578823596

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986867_5986873del , CM000669.2:g.5986867_5986873del	GRCh38
NC_000007.13:g.6026498_6026504del , CM000669.1:g.6026498_6026504del	GRCh37
NC_000007.12:g.5993024_5993030del	NCBI36
NG_008466.1:g.27234_27240del , LRG_161:g.27234_27240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1288_*1294del	ENSP00000514615.2:n.*1288_*1294del
ENST00000699840.2:c.1889_1895del	ENSP00000514638.2:p.Gln630LeufsTer?
ENST00000699930.2:c.1784_1790del	ENSP00000514695.2:p.Gln595LeufsTer?
ENST00000406569.8:c.1678+214_1678+220del	ENSP00000514464.1:n.1678+214_1678+220del
ENST00000644110.2:c.*1486_*1492del	ENSP00000496392.2:n.*1486_*1492del
ENST00000699752.1:c.1736_1742del	ENSP00000514561.1:p.Gln579LeufsTer?
ENST00000699753.1:c.*1313_*1319del	ENSP00000514562.1:n.*1313_*1319del
ENST00000699754.1:c.1694_1700del	ENSP00000514563.1:p.Gln565LeufsTer?
ENST00000699755.1:c.*1291_*1297del	ENSP00000514564.1:n.*1291_*1297del
ENST00000699756.1:c.*1479_*1485del	ENSP00000514565.1:n.*1479_*1485del
ENST00000699757.1:c.*1149_*1155del	ENSP00000514566.1:n.*1149_*1155del
ENST00000699758.1:c.*1149_*1155del	ENSP00000514567.1:n.*1149_*1155del
ENST00000699759.1:n.2746_2752del
ENST00000699760.1:c.1574_1580del	ENSP00000514568.1:p.Gln525LeufsTer?
ENST00000699761.1:c.1487_1493del	ENSP00000514569.1:p.Gln496LeufsTer?
ENST00000699762.1:c.1319_1325del	ENSP00000514570.1:p.Gln440LeufsTer?
ENST00000699763.1:c.*982_*988del	ENSP00000514571.1:n.*982_*988del
ENST00000699764.1:c.*210_*216del	ENSP00000514572.1:n.*210_*216del
ENST00000699765.1:c.*988_*994del	ENSP00000514573.1:n.*988_*994del
ENST00000699766.1:c.1892_1898del	ENSP00000514574.1:p.Gln631LeufsTer?
ENST00000699767.1:c.1892_1898del	ENSP00000514575.1:p.Gln631LeufsTer?
ENST00000699768.1:c.1892_1898del	ENSP00000514576.1:p.Gln631LeufsTer?
ENST00000699811.1:c.1487_1493del	ENSP00000514614.1:p.Gln496LeufsTer?
ENST00000699813.1:n.2005_2011del
ENST00000699814.1:c.1515_1521del
ENST00000699815.1:c.*1423_*1429del	ENSP00000514616.1:n.*1423_*1429del
ENST00000699816.1:c.*782_*788del	ENSP00000514617.1:n.*782_*788del
ENST00000699817.1:c.*1486_*1492del	ENSP00000514618.1:n.*1486_*1492del
ENST00000699818.1:c.1487_1493del	ENSP00000514619.1:p.Gln496LeufsTer?
ENST00000699819.1:c.*1049_*1055del	ENSP00000514620.1:n.*1049_*1055del
ENST00000699820.1:c.1144+2927_1144+2933del	ENSP00000514621.1:n.1144+2927_1144+2933del
ENST00000699821.1:c.1487_1493del	ENSP00000514622.1:p.Gln496LeufsTer?
ENST00000699822.1:c.*1344_*1350del	ENSP00000514623.1:n.*1344_*1350del
ENST00000699823.1:c.1487_1493del	ENSP00000514624.1:p.Gln496LeufsTer?
ENST00000699824.1:c.*1395_*1401del	ENSP00000514625.1:n.*1395_*1401del
ENST00000699825.1:c.1331_1337del	ENSP00000514626.1:p.Gln444LeufsTer?
ENST00000699826.1:c.*1291_*1297del	ENSP00000514627.1:n.*1291_*1297del
ENST00000699827.1:c.1724_1730del	ENSP00000514628.1:p.Gln575LeufsTer?
ENST00000699828.1:c.*982_*988del	ENSP00000514629.1:n.*982_*988del
ENST00000699833.1:n.3664_3670del
ENST00000699837.1:c.1487_1493del	ENSP00000514635.1:p.Gln496LeufsTer?
ENST00000699838.1:c.*1792_*1798del	ENSP00000514636.1:n.*1792_*1798del
ENST00000699839.1:c.2078_2084del	ENSP00000514637.1:p.Gln693LeufsTer?
ENST00000699916.1:c.*1149_*1155del	ENSP00000514684.1:n.*1149_*1155del
ENST00000699917.1:c.*1341_*1347del	ENSP00000514685.1:n.*1341_*1347del
ENST00000699918.1:c.*1393_*1399del	ENSP00000514686.1:n.*1393_*1399del
ENST00000699919.1:c.*1479_*1485del	ENSP00000514687.1:n.*1479_*1485del
ENST00000699920.1:c.*1528_*1534del	ENSP00000514688.1:n.*1528_*1534del
ENST00000699928.1:c.989-3882_989-3876del	ENSP00000514693.1:n.989-3882_989-3876del
ENST00000699951.1:c.*988_*994del	ENSP00000514706.1:n.*988_*994del
ENST00000699952.1:c.803+10453_803+10459del	ENSP00000514707.1:n.803+10453_803+10459del
ENST00000265849.12:c.1892_1898del MANE Select	ENSP00000265849.7:p.Gln631LeufsTer?
ENST00000642292.1:c.1487_1493del	ENSP00000495524.1:p.Gln496LeufsTer?
ENST00000642456.1:c.1487_1493del	ENSP00000493814.1:p.Gln496LeufsTer?
ENST00000643595.1:c.*1291_*1297del	ENSP00000494497.1:n.*1291_*1297del
ENST00000644110.1:c.1574_1580del	ENSP00000496392.1:p.Gln525LeufsTer?
ENST00000265849.11:c.1892_1898del	ENSP00000265849.7:p.Gln631LeufsTer?
ENST00000382321.5:c.804-3882_804-3876del	ENSP00000371758.4:n.804-3882_804-3876del
ENST00000406569.7:n.1678+214_1678+220del
ENST00000441476.6:c.1574_1580del	ENSP00000392843.2:p.Gln525LeufsTer?
ENST00000469652.1:n.63-3968_63-3962del
NM_000535.5:c.1892_1898del , LRG_161t1:c.1892_1898del	NP_000526.1:p.Gln631LeufsTer?
NR_003085.2:n.1974_1980del
XM_006715742.2:c.1886_1892del	XP_006715805.1:p.Gln629LeufsTer?
XM_006715744.2:c.959_965del	XP_006715807.1:p.Gln320LeufsTer?
XM_011515427.1:c.1937_1943del	XP_011513729.1:p.Gln646LeufsTer?
XM_011515428.1:c.1781_1787del	XP_011513730.1:p.Gln594LeufsTer?
XM_011515429.1:c.1574_1580del	XP_011513731.1:p.Gln525LeufsTer?
XM_011515430.1:c.1574_1580del	XP_011513732.1:p.Gln525LeufsTer?
NM_000535.6:c.1892_1898del	NP_000526.2:p.Gln631LeufsTer?
NM_001322003.1:c.1487_1493del	NP_001308932.1:p.Gln496LeufsTer?
NM_001322004.1:c.1487_1493del	NP_001308933.1:p.Gln496LeufsTer?
NM_001322005.1:c.1487_1493del	NP_001308934.1:p.Gln496LeufsTer?
NM_001322006.1:c.1736_1742del	NP_001308935.1:p.Gln579LeufsTer?
NM_001322007.1:c.1574_1580del	NP_001308936.1:p.Gln525LeufsTer?
NM_001322008.1:c.1574_1580del	NP_001308937.1:p.Gln525LeufsTer?
NM_001322009.1:c.1487_1493del	NP_001308938.1:p.Gln496LeufsTer?
NM_001322010.1:c.1331_1337del	NP_001308939.1:p.Gln444LeufsTer?
NM_001322011.1:c.959_965del	NP_001308940.1:p.Gln320LeufsTer?
NM_001322012.1:c.959_965del	NP_001308941.1:p.Gln320LeufsTer?
NM_001322013.1:c.1319_1325del	NP_001308942.1:p.Gln440LeufsTer?
NM_001322014.1:c.1892_1898del	NP_001308943.1:p.Gln631LeufsTer?
NM_001322015.1:c.1583_1589del	NP_001308944.1:p.Gln528LeufsTer?
NR_136154.1:n.1979_1985del
XM_006715744.4:c.959_965del	XP_006715807.1:p.Gln320LeufsTer?
XM_017012342.2:c.959_965del	XP_016867831.1:p.Gln320LeufsTer?
XM_024446800.1:c.1331_1337del	XP_024302568.1:p.Gln444LeufsTer?
NM_000535.7:c.1892_1898del MANE Select	NP_000526.2:p.Gln631LeufsTer?
NM_001322003.2:c.1487_1493del	NP_001308932.1:p.Gln496LeufsTer?
NM_001322004.2:c.1487_1493del	NP_001308933.1:p.Gln496LeufsTer?
NM_001322005.2:c.1487_1493del	NP_001308934.1:p.Gln496LeufsTer?
NM_001322006.2:c.1736_1742del	NP_001308935.1:p.Gln579LeufsTer?
NM_001322008.2:c.1574_1580del	NP_001308937.1:p.Gln525LeufsTer?
NM_001322009.2:c.1487_1493del	NP_001308938.1:p.Gln496LeufsTer?
NM_001322010.2:c.1331_1337del	NP_001308939.1:p.Gln444LeufsTer?
NM_001322011.2:c.959_965del	NP_001308940.1:p.Gln320LeufsTer?
NM_001322012.2:c.959_965del	NP_001308941.1:p.Gln320LeufsTer?
NM_001322013.2:c.1319_1325del	NP_001308942.1:p.Gln440LeufsTer?
NM_001322014.2:c.1892_1898del	NP_001308943.1:p.Gln631LeufsTer?
NM_001322015.2:c.1583_1589del	NP_001308944.1:p.Gln528LeufsTer?
NM_001322007.2:c.1574_1580del	NP_001308936.1:p.Gln525LeufsTer?