Canonical Allele Identifier: CA1685226296
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986887_5986891delinsAGCTA , CM000669.2:g.5986887_5986891delinsAGCTA GRCh38
NC_000007.13:g.6026518_6026522delinsAGCTA , CM000669.1:g.6026518_6026522delinsAGCTA GRCh37
NC_000007.12:g.5993044_5993048delinsAGCTA NCBI36
NG_008466.1:g.27216_27220delinsTAGCT , LRG_161:g.27216_27220delinsTAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1270_*1274delinsTAGCT ENSP00000514615.2:n.*1270_*1274delinsTAGCT
ENST00000699840.2:c.1871_1875delinsTAGCT ENSP00000514638.2:p.Leu624=
ENST00000699930.2:c.1766_1770delinsTAGCT ENSP00000514695.2:p.Leu589=
ENST00000406569.8:c.1678+196_1678+200delinsTAGCT ENSP00000514464.1:n.1678+196_1678+200delinsTAGCT
ENST00000644110.2:c.*1468_*1472delinsTAGCT ENSP00000496392.2:n.*1468_*1472delinsTAGCT
ENST00000699752.1:c.1718_1722delinsTAGCT ENSP00000514561.1:p.Leu573=
ENST00000699753.1:c.*1295_*1299delinsTAGCT ENSP00000514562.1:n.*1295_*1299delinsTAGCT
ENST00000699754.1:c.1676_1680delinsTAGCT ENSP00000514563.1:p.Leu559=
ENST00000699755.1:c.*1273_*1277delinsTAGCT ENSP00000514564.1:n.*1273_*1277delinsTAGCT
ENST00000699756.1:c.*1461_*1465delinsTAGCT ENSP00000514565.1:n.*1461_*1465delinsTAGCT
ENST00000699757.1:c.*1131_*1135delinsTAGCT ENSP00000514566.1:n.*1131_*1135delinsTAGCT
ENST00000699758.1:c.*1131_*1135delinsTAGCT ENSP00000514567.1:n.*1131_*1135delinsTAGCT
ENST00000699759.1:n.2728_2732delinsTAGCT
ENST00000699760.1:c.1556_1560delinsTAGCT ENSP00000514568.1:p.Leu519=
ENST00000699761.1:c.1469_1473delinsTAGCT ENSP00000514569.1:p.Leu490=
ENST00000699762.1:c.1301_1305delinsTAGCT ENSP00000514570.1:p.Leu434=
ENST00000699763.1:c.*964_*968delinsTAGCT ENSP00000514571.1:n.*964_*968delinsTAGCT
ENST00000699764.1:c.*192_*196delinsTAGCT ENSP00000514572.1:n.*192_*196delinsTAGCT
ENST00000699765.1:c.*970_*974delinsTAGCT ENSP00000514573.1:n.*970_*974delinsTAGCT
ENST00000699766.1:c.1874_1878delinsTAGCT ENSP00000514574.1:p.Leu625=
ENST00000699767.1:c.1874_1878delinsTAGCT ENSP00000514575.1:p.Leu625=
ENST00000699768.1:c.1874_1878delinsTAGCT ENSP00000514576.1:p.Leu625=
ENST00000699811.1:c.1469_1473delinsTAGCT ENSP00000514614.1:p.Leu490=
ENST00000699813.1:n.1987_1991delinsTAGCT
ENST00000699814.1:c.1497_1501delinsTAGCT
ENST00000699815.1:c.*1405_*1409delinsTAGCT ENSP00000514616.1:n.*1405_*1409delinsTAGCT
ENST00000699816.1:c.*764_*768delinsTAGCT ENSP00000514617.1:n.*764_*768delinsTAGCT
ENST00000699817.1:c.*1468_*1472delinsTAGCT ENSP00000514618.1:n.*1468_*1472delinsTAGCT
ENST00000699818.1:c.1469_1473delinsTAGCT ENSP00000514619.1:p.Leu490=
ENST00000699819.1:c.*1031_*1035delinsTAGCT ENSP00000514620.1:n.*1031_*1035delinsTAGCT
ENST00000699820.1:c.1144+2909_1144+2913delinsTAGCT ENSP00000514621.1:n.1144+2909_1144+2913delinsTAGCT
ENST00000699821.1:c.1469_1473delinsTAGCT ENSP00000514622.1:p.Leu490=
ENST00000699822.1:c.*1326_*1330delinsTAGCT ENSP00000514623.1:n.*1326_*1330delinsTAGCT
ENST00000699823.1:c.1469_1473delinsTAGCT ENSP00000514624.1:p.Leu490=
ENST00000699824.1:c.*1377_*1381delinsTAGCT ENSP00000514625.1:n.*1377_*1381delinsTAGCT
ENST00000699825.1:c.1313_1317delinsTAGCT ENSP00000514626.1:p.Leu438=
ENST00000699826.1:c.*1273_*1277delinsTAGCT ENSP00000514627.1:n.*1273_*1277delinsTAGCT
ENST00000699827.1:c.1706_1710delinsTAGCT ENSP00000514628.1:p.Leu569=
ENST00000699828.1:c.*964_*968delinsTAGCT ENSP00000514629.1:n.*964_*968delinsTAGCT
ENST00000699833.1:n.3646_3650delinsTAGCT
ENST00000699837.1:c.1469_1473delinsTAGCT ENSP00000514635.1:p.Leu490=
ENST00000699838.1:c.*1774_*1778delinsTAGCT ENSP00000514636.1:n.*1774_*1778delinsTAGCT
ENST00000699839.1:c.2060_2064delinsTAGCT ENSP00000514637.1:p.Leu687=
ENST00000699916.1:c.*1131_*1135delinsTAGCT ENSP00000514684.1:n.*1131_*1135delinsTAGCT
ENST00000699917.1:c.*1323_*1327delinsTAGCT ENSP00000514685.1:n.*1323_*1327delinsTAGCT
ENST00000699918.1:c.*1375_*1379delinsTAGCT ENSP00000514686.1:n.*1375_*1379delinsTAGCT
ENST00000699919.1:c.*1461_*1465delinsTAGCT ENSP00000514687.1:n.*1461_*1465delinsTAGCT
ENST00000699920.1:c.*1510_*1514delinsTAGCT ENSP00000514688.1:n.*1510_*1514delinsTAGCT
ENST00000699928.1:c.989-3900_989-3896delinsTAGCT ENSP00000514693.1:n.989-3900_989-3896delinsTAGCT
ENST00000699951.1:c.*970_*974delinsTAGCT ENSP00000514706.1:n.*970_*974delinsTAGCT
ENST00000699952.1:c.803+10435_803+10439delinsTAGCT ENSP00000514707.1:n.803+10435_803+10439delinsTAGCT
ENST00000265849.12:c.1874_1878delinsTAGCT MANE Select ENSP00000265849.7:p.Leu625=
ENST00000642292.1:c.1469_1473delinsTAGCT ENSP00000495524.1:p.Leu490=
ENST00000642456.1:c.1469_1473delinsTAGCT ENSP00000493814.1:p.Leu490=
ENST00000643595.1:c.*1273_*1277delinsTAGCT ENSP00000494497.1:n.*1273_*1277delinsTAGCT
ENST00000644110.1:c.1556_1560delinsTAGCT ENSP00000496392.1:p.Leu519=
ENST00000265849.11:c.1874_1878delinsTAGCT ENSP00000265849.7:p.Leu625=
ENST00000382321.5:c.804-3900_804-3896delinsTAGCT ENSP00000371758.4:n.804-3900_804-3896delinsTAGCT
ENST00000406569.7:n.1678+196_1678+200delinsTAGCT
ENST00000441476.6:c.1556_1560delinsTAGCT ENSP00000392843.2:p.Leu519=
ENST00000469652.1:n.63-3986_63-3982delinsTAGCT
NM_000535.5:c.1874_1878delinsTAGCT , LRG_161t1:c.1874_1878delinsTAGCT NP_000526.1:p.Leu625=
NR_003085.2:n.1956_1960delinsTAGCT
XM_006715742.2:c.1868_1872delinsTAGCT XP_006715805.1:p.Leu623=
XM_006715744.2:c.941_945delinsTAGCT XP_006715807.1:p.Leu314=
XM_011515427.1:c.1919_1923delinsTAGCT XP_011513729.1:p.Leu640=
XM_011515428.1:c.1763_1767delinsTAGCT XP_011513730.1:p.Leu588=
XM_011515429.1:c.1556_1560delinsTAGCT XP_011513731.1:p.Leu519=
XM_011515430.1:c.1556_1560delinsTAGCT XP_011513732.1:p.Leu519=
NM_000535.6:c.1874_1878delinsTAGCT NP_000526.2:p.Leu625=
NM_001322003.1:c.1469_1473delinsTAGCT NP_001308932.1:p.Leu490=
NM_001322004.1:c.1469_1473delinsTAGCT NP_001308933.1:p.Leu490=
NM_001322005.1:c.1469_1473delinsTAGCT NP_001308934.1:p.Leu490=
NM_001322006.1:c.1718_1722delinsTAGCT NP_001308935.1:p.Leu573=
NM_001322007.1:c.1556_1560delinsTAGCT NP_001308936.1:p.Leu519=
NM_001322008.1:c.1556_1560delinsTAGCT NP_001308937.1:p.Leu519=
NM_001322009.1:c.1469_1473delinsTAGCT NP_001308938.1:p.Leu490=
NM_001322010.1:c.1313_1317delinsTAGCT NP_001308939.1:p.Leu438=
NM_001322011.1:c.941_945delinsTAGCT NP_001308940.1:p.Leu314=
NM_001322012.1:c.941_945delinsTAGCT NP_001308941.1:p.Leu314=
NM_001322013.1:c.1301_1305delinsTAGCT NP_001308942.1:p.Leu434=
NM_001322014.1:c.1874_1878delinsTAGCT NP_001308943.1:p.Leu625=
NM_001322015.1:c.1565_1569delinsTAGCT NP_001308944.1:p.Leu522=
NR_136154.1:n.1961_1965delinsTAGCT
XM_006715744.4:c.941_945delinsTAGCT XP_006715807.1:p.Leu314=
XM_017012342.2:c.941_945delinsTAGCT XP_016867831.1:p.Leu314=
XM_024446800.1:c.1313_1317delinsTAGCT XP_024302568.1:p.Leu438=
NM_000535.7:c.1874_1878delinsTAGCT MANE Select NP_000526.2:p.Leu625=
NM_001322003.2:c.1469_1473delinsTAGCT NP_001308932.1:p.Leu490=
NM_001322004.2:c.1469_1473delinsTAGCT NP_001308933.1:p.Leu490=
NM_001322005.2:c.1469_1473delinsTAGCT NP_001308934.1:p.Leu490=
NM_001322006.2:c.1718_1722delinsTAGCT NP_001308935.1:p.Leu573=
NM_001322008.2:c.1556_1560delinsTAGCT NP_001308937.1:p.Leu519=
NM_001322009.2:c.1469_1473delinsTAGCT NP_001308938.1:p.Leu490=
NM_001322010.2:c.1313_1317delinsTAGCT NP_001308939.1:p.Leu438=
NM_001322011.2:c.941_945delinsTAGCT NP_001308940.1:p.Leu314=
NM_001322012.2:c.941_945delinsTAGCT NP_001308941.1:p.Leu314=
NM_001322013.2:c.1301_1305delinsTAGCT NP_001308942.1:p.Leu434=
NM_001322014.2:c.1874_1878delinsTAGCT NP_001308943.1:p.Leu625=
NM_001322015.2:c.1565_1569delinsTAGCT NP_001308944.1:p.Leu522=
NM_001322007.2:c.1556_1560delinsTAGCT NP_001308936.1:p.Leu519=