Canonical Allele Identifier: CA1685228800

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987213_5987219delinsCGCTGCT , CM000669.2:g.5987213_5987219delinsCGCTGCT	GRCh38
NC_000007.13:g.6026844_6026850delinsCGCTGCT , CM000669.1:g.6026844_6026850delinsCGCTGCT	GRCh37
NC_000007.12:g.5993370_5993376delinsCGCTGCT	NCBI36
NG_008466.1:g.26888_26894delinsAGCAGCG , LRG_161:g.26888_26894delinsAGCAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*942_*948delinsAGCAGCG	ENSP00000514615.2:n.*942_*948delinsAGCAGCG
ENST00000699840.2:c.1543_1549delinsAGCAGCG	ENSP00000514638.2:p.Ser515=
ENST00000699930.2:c.1438_1444delinsAGCAGCG	ENSP00000514695.2:p.Ser480=
ENST00000406569.8:c.1546_1552delinsAGCAGCG	ENSP00000514464.1:p.Ser516=
ENST00000644110.2:c.*1140_*1146delinsAGCAGCG	ENSP00000496392.2:n.*1140_*1146delinsAGCAGCG
ENST00000699752.1:c.1390_1396delinsAGCAGCG	ENSP00000514561.1:p.Ser464=
ENST00000699753.1:c.*967_*973delinsAGCAGCG	ENSP00000514562.1:n.*967_*973delinsAGCAGCG
ENST00000699754.1:c.1348_1354delinsAGCAGCG	ENSP00000514563.1:p.Ser450=
ENST00000699755.1:c.*945_*951delinsAGCAGCG	ENSP00000514564.1:n.*945_*951delinsAGCAGCG
ENST00000699756.1:c.*1133_*1139delinsAGCAGCG	ENSP00000514565.1:n.*1133_*1139delinsAGCAGCG
ENST00000699757.1:c.*803_*809delinsAGCAGCG	ENSP00000514566.1:n.*803_*809delinsAGCAGCG
ENST00000699758.1:c.*803_*809delinsAGCAGCG	ENSP00000514567.1:n.*803_*809delinsAGCAGCG
ENST00000699759.1:n.2400_2406delinsAGCAGCG
ENST00000699760.1:c.1228_1234delinsAGCAGCG	ENSP00000514568.1:p.Ser410=
ENST00000699761.1:c.1141_1147delinsAGCAGCG	ENSP00000514569.1:p.Ser381=
ENST00000699762.1:c.973_979delinsAGCAGCG	ENSP00000514570.1:p.Ser325=
ENST00000699763.1:c.*636_*642delinsAGCAGCG	ENSP00000514571.1:n.*636_*642delinsAGCAGCG
ENST00000699764.1:c.1546_1552delinsAGCAGCG	ENSP00000514572.1:p.Ser516=
ENST00000699765.1:c.*642_*648delinsAGCAGCG	ENSP00000514573.1:n.*642_*648delinsAGCAGCG
ENST00000699766.1:c.1546_1552delinsAGCAGCG	ENSP00000514574.1:p.Ser516=
ENST00000699767.1:c.1546_1552delinsAGCAGCG	ENSP00000514575.1:p.Ser516=
ENST00000699768.1:c.1546_1552delinsAGCAGCG	ENSP00000514576.1:p.Ser516=
ENST00000699811.1:c.1141_1147delinsAGCAGCG	ENSP00000514614.1:p.Ser381=
ENST00000699813.1:n.1659_1665delinsAGCAGCG
ENST00000699814.1:c.1169_1175delinsAGCAGCG
ENST00000699815.1:c.*1077_*1083delinsAGCAGCG	ENSP00000514616.1:n.*1077_*1083delinsAGCAGCG
ENST00000699816.1:c.*436_*442delinsAGCAGCG	ENSP00000514617.1:n.*436_*442delinsAGCAGCG
ENST00000699817.1:c.*1140_*1146delinsAGCAGCG	ENSP00000514618.1:n.*1140_*1146delinsAGCAGCG
ENST00000699818.1:c.1141_1147delinsAGCAGCG	ENSP00000514619.1:p.Ser381=
ENST00000699819.1:c.*703_*709delinsAGCAGCG	ENSP00000514620.1:n.*703_*709delinsAGCAGCG
ENST00000699820.1:c.1144+2581_1144+2587delinsAGCAGCG	ENSP00000514621.1:n.1144+2581_1144+2587delinsAGCAGCG
ENST00000699821.1:c.1141_1147delinsAGCAGCG	ENSP00000514622.1:p.Ser381=
ENST00000699822.1:c.*998_*1004delinsAGCAGCG	ENSP00000514623.1:n.*998_*1004delinsAGCAGCG
ENST00000699823.1:c.1141_1147delinsAGCAGCG	ENSP00000514624.1:p.Ser381=
ENST00000699824.1:c.*1049_*1055delinsAGCAGCG	ENSP00000514625.1:n.*1049_*1055delinsAGCAGCG
ENST00000699825.1:c.985_991delinsAGCAGCG	ENSP00000514626.1:p.Ser329=
ENST00000699826.1:c.*945_*951delinsAGCAGCG	ENSP00000514627.1:n.*945_*951delinsAGCAGCG
ENST00000699827.1:c.1378_1384delinsAGCAGCG	ENSP00000514628.1:p.Ser460=
ENST00000699828.1:c.*636_*642delinsAGCAGCG	ENSP00000514629.1:n.*636_*642delinsAGCAGCG
ENST00000699833.1:n.3318_3324delinsAGCAGCG
ENST00000699837.1:c.1141_1147delinsAGCAGCG	ENSP00000514635.1:p.Ser381=
ENST00000699838.1:c.*1446_*1452delinsAGCAGCG	ENSP00000514636.1:n.*1446_*1452delinsAGCAGCG
ENST00000699839.1:c.1732_1738delinsAGCAGCG	ENSP00000514637.1:p.Ser578=
ENST00000699916.1:c.*803_*809delinsAGCAGCG	ENSP00000514684.1:n.*803_*809delinsAGCAGCG
ENST00000699917.1:c.*995_*1001delinsAGCAGCG	ENSP00000514685.1:n.*995_*1001delinsAGCAGCG
ENST00000699918.1:c.*1047_*1053delinsAGCAGCG	ENSP00000514686.1:n.*1047_*1053delinsAGCAGCG
ENST00000699919.1:c.*1133_*1139delinsAGCAGCG	ENSP00000514687.1:n.*1133_*1139delinsAGCAGCG
ENST00000699920.1:c.*1182_*1188delinsAGCAGCG	ENSP00000514688.1:n.*1182_*1188delinsAGCAGCG
ENST00000699928.1:c.989-4228_989-4222delinsAGCAGCG	ENSP00000514693.1:n.989-4228_989-4222delinsAGCAGCG
ENST00000699929.1:c.*847_*853delinsAGCAGCG	ENSP00000514694.1:n.*847_*853delinsAGCAGCG
ENST00000699930.1:c.1438_1444delinsAGCAGCG	ENSP00000514695.1:p.Ser480=
ENST00000699931.1:n.2974_2980delinsAGCAGCG
ENST00000699951.1:c.*642_*648delinsAGCAGCG	ENSP00000514706.1:n.*642_*648delinsAGCAGCG
ENST00000699952.1:c.803+10107_803+10113delinsAGCAGCG	ENSP00000514707.1:n.803+10107_803+10113delinsAGCAGCG
ENST00000699953.1:c.*653_*659delinsAGCAGCG	ENSP00000514708.1:n.*653_*659delinsAGCAGCG
ENST00000699954.1:c.*847_*853delinsAGCAGCG	ENSP00000514709.1:n.*847_*853delinsAGCAGCG
ENST00000265849.12:c.1546_1552delinsAGCAGCG MANE Select	ENSP00000265849.7:p.Ser516=
ENST00000642292.1:c.1141_1147delinsAGCAGCG	ENSP00000495524.1:p.Ser381=
ENST00000642456.1:c.1141_1147delinsAGCAGCG	ENSP00000493814.1:p.Ser381=
ENST00000643595.1:c.*945_*951delinsAGCAGCG	ENSP00000494497.1:n.*945_*951delinsAGCAGCG
ENST00000644110.1:c.1228_1234delinsAGCAGCG	ENSP00000496392.1:p.Ser410=
ENST00000265849.11:c.1546_1552delinsAGCAGCG	ENSP00000265849.7:p.Ser516=
ENST00000382321.5:c.804-4228_804-4222delinsAGCAGCG	ENSP00000371758.4:n.804-4228_804-4222delinsAGCAGCG
ENST00000406569.7:n.1546_1552delinsAGCAGCG
ENST00000441476.6:c.1228_1234delinsAGCAGCG	ENSP00000392843.2:p.Ser410=
ENST00000469652.1:n.63-4314_63-4308delinsAGCAGCG
NM_000535.5:c.1546_1552delinsAGCAGCG , LRG_161t1:c.1546_1552delinsAGCAGCG	NP_000526.1:p.Ser516=
NR_003085.2:n.1628_1634delinsAGCAGCG
XM_006715742.2:c.1540_1546delinsAGCAGCG	XP_006715805.1:p.Ser514=
XM_006715744.2:c.613_619delinsAGCAGCG	XP_006715807.1:p.Ser205=
XM_011515427.1:c.1591_1597delinsAGCAGCG	XP_011513729.1:p.Ser531=
XM_011515428.1:c.1435_1441delinsAGCAGCG	XP_011513730.1:p.Ser479=
XM_011515429.1:c.1228_1234delinsAGCAGCG	XP_011513731.1:p.Ser410=
XM_011515430.1:c.1228_1234delinsAGCAGCG	XP_011513732.1:p.Ser410=
NM_000535.6:c.1546_1552delinsAGCAGCG	NP_000526.2:p.Ser516=
NM_001322003.1:c.1141_1147delinsAGCAGCG	NP_001308932.1:p.Ser381=
NM_001322004.1:c.1141_1147delinsAGCAGCG	NP_001308933.1:p.Ser381=
NM_001322005.1:c.1141_1147delinsAGCAGCG	NP_001308934.1:p.Ser381=
NM_001322006.1:c.1390_1396delinsAGCAGCG	NP_001308935.1:p.Ser464=
NM_001322007.1:c.1228_1234delinsAGCAGCG	NP_001308936.1:p.Ser410=
NM_001322008.1:c.1228_1234delinsAGCAGCG	NP_001308937.1:p.Ser410=
NM_001322009.1:c.1141_1147delinsAGCAGCG	NP_001308938.1:p.Ser381=
NM_001322010.1:c.985_991delinsAGCAGCG	NP_001308939.1:p.Ser329=
NM_001322011.1:c.613_619delinsAGCAGCG	NP_001308940.1:p.Ser205=
NM_001322012.1:c.613_619delinsAGCAGCG	NP_001308941.1:p.Ser205=
NM_001322013.1:c.973_979delinsAGCAGCG	NP_001308942.1:p.Ser325=
NM_001322014.1:c.1546_1552delinsAGCAGCG	NP_001308943.1:p.Ser516=
NM_001322015.1:c.1237_1243delinsAGCAGCG	NP_001308944.1:p.Ser413=
NR_136154.1:n.1633_1639delinsAGCAGCG
XM_006715744.4:c.613_619delinsAGCAGCG	XP_006715807.1:p.Ser205=
XM_017012342.2:c.613_619delinsAGCAGCG	XP_016867831.1:p.Ser205=
XM_024446800.1:c.985_991delinsAGCAGCG	XP_024302568.1:p.Ser329=
NM_000535.7:c.1546_1552delinsAGCAGCG MANE Select	NP_000526.2:p.Ser516=
NM_001322003.2:c.1141_1147delinsAGCAGCG	NP_001308932.1:p.Ser381=
NM_001322004.2:c.1141_1147delinsAGCAGCG	NP_001308933.1:p.Ser381=
NM_001322005.2:c.1141_1147delinsAGCAGCG	NP_001308934.1:p.Ser381=
NM_001322006.2:c.1390_1396delinsAGCAGCG	NP_001308935.1:p.Ser464=
NM_001322008.2:c.1228_1234delinsAGCAGCG	NP_001308937.1:p.Ser410=
NM_001322009.2:c.1141_1147delinsAGCAGCG	NP_001308938.1:p.Ser381=
NM_001322010.2:c.985_991delinsAGCAGCG	NP_001308939.1:p.Ser329=
NM_001322011.2:c.613_619delinsAGCAGCG	NP_001308940.1:p.Ser205=
NM_001322012.2:c.613_619delinsAGCAGCG	NP_001308941.1:p.Ser205=
NM_001322013.2:c.973_979delinsAGCAGCG	NP_001308942.1:p.Ser325=
NM_001322014.2:c.1546_1552delinsAGCAGCG	NP_001308943.1:p.Ser516=
NM_001322015.2:c.1237_1243delinsAGCAGCG	NP_001308944.1:p.Ser413=
NM_001322007.2:c.1228_1234delinsAGCAGCG	NP_001308936.1:p.Ser410=