Canonical Allele Identifier: CA1685230976
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987526_5987527delinsTT , CM000669.2:g.5987526_5987527delinsTT GRCh38
NC_000007.13:g.6027157_6027158delinsTT , CM000669.1:g.6027157_6027158delinsTT GRCh37
NC_000007.12:g.5993683_5993684delinsTT NCBI36
NG_008466.1:g.26580_26581delinsAA , LRG_161:g.26580_26581delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000699814.2:c.*634_*635delinsAA ENSP00000514615.2:n.*634_*635delinsAA
ENST00000699840.2:c.1235_1236delinsAA ENSP00000514638.2:p.Lys412=
ENST00000699930.2:c.1130_1131delinsAA ENSP00000514695.2:p.Lys377=
ENST00000406569.8:c.1238_1239delinsAA ENSP00000514464.1:p.Lys413=
ENST00000644110.2:c.*832_*833delinsAA ENSP00000496392.2:n.*832_*833delinsAA
ENST00000699752.1:c.1082_1083delinsAA ENSP00000514561.1:p.Lys361=
ENST00000699753.1:c.*659_*660delinsAA ENSP00000514562.1:n.*659_*660delinsAA
ENST00000699754.1:c.1040_1041delinsAA ENSP00000514563.1:p.Lys347=
ENST00000699755.1:c.*637_*638delinsAA ENSP00000514564.1:n.*637_*638delinsAA
ENST00000699756.1:c.*825_*826delinsAA ENSP00000514565.1:n.*825_*826delinsAA
ENST00000699757.1:c.*495_*496delinsAA ENSP00000514566.1:n.*495_*496delinsAA
ENST00000699758.1:c.*495_*496delinsAA ENSP00000514567.1:n.*495_*496delinsAA
ENST00000699759.1:n.2092_2093delinsAA
ENST00000699760.1:c.920_921delinsAA ENSP00000514568.1:p.Lys307=
ENST00000699761.1:c.833_834delinsAA ENSP00000514569.1:p.Lys278=
ENST00000699762.1:c.665_666delinsAA ENSP00000514570.1:p.Lys222=
ENST00000699763.1:c.*328_*329delinsAA ENSP00000514571.1:n.*328_*329delinsAA
ENST00000699764.1:c.1238_1239delinsAA ENSP00000514572.1:p.Lys413=
ENST00000699765.1:c.*334_*335delinsAA ENSP00000514573.1:n.*334_*335delinsAA
ENST00000699766.1:c.1238_1239delinsAA ENSP00000514574.1:p.Lys413=
ENST00000699767.1:c.1238_1239delinsAA ENSP00000514575.1:p.Lys413=
ENST00000699768.1:c.1238_1239delinsAA ENSP00000514576.1:p.Lys413=
ENST00000699811.1:c.833_834delinsAA ENSP00000514614.1:p.Lys278=
ENST00000699813.1:n.1351_1352delinsAA
ENST00000699814.1:c.861_862delinsAA
ENST00000699815.1:c.*769_*770delinsAA ENSP00000514616.1:n.*769_*770delinsAA
ENST00000699816.1:c.*128_*129delinsAA ENSP00000514617.1:n.*128_*129delinsAA
ENST00000699817.1:c.*832_*833delinsAA ENSP00000514618.1:n.*832_*833delinsAA
ENST00000699818.1:c.833_834delinsAA ENSP00000514619.1:p.Lys278=
ENST00000699819.1:c.*395_*396delinsAA ENSP00000514620.1:n.*395_*396delinsAA
ENST00000699820.1:c.1144+2273_1144+2274delinsAA ENSP00000514621.1:n.1144+2273_1144+2274de...
ENST00000699821.1:c.833_834delinsAA ENSP00000514622.1:p.Lys278=
ENST00000699822.1:c.*690_*691delinsAA ENSP00000514623.1:n.*690_*691delinsAA
ENST00000699823.1:c.833_834delinsAA ENSP00000514624.1:p.Lys278=
ENST00000699824.1:c.*741_*742delinsAA ENSP00000514625.1:n.*741_*742delinsAA
ENST00000699825.1:c.677_678delinsAA ENSP00000514626.1:p.Lys226=
ENST00000699826.1:c.*637_*638delinsAA ENSP00000514627.1:n.*637_*638delinsAA
ENST00000699827.1:c.1070_1071delinsAA ENSP00000514628.1:p.Lys357=
ENST00000699828.1:c.*328_*329delinsAA ENSP00000514629.1:n.*328_*329delinsAA
ENST00000699829.1:c.*739_*740delinsAA ENSP00000514630.1:n.*739_*740delinsAA
ENST00000699830.1:c.*637_*638delinsAA ENSP00000514631.1:n.*637_*638delinsAA
ENST00000699833.1:n.3010_3011delinsAA
ENST00000699837.1:c.833_834delinsAA ENSP00000514635.1:p.Lys278=
ENST00000699838.1:c.*1138_*1139delinsAA ENSP00000514636.1:n.*1138_*1139delinsAA
ENST00000699839.1:c.1424_1425delinsAA ENSP00000514637.1:p.Lys475=
ENST00000699840.1:c.1235_1236delinsAA ENSP00000514638.1:p.Lys412=
ENST00000699916.1:c.*495_*496delinsAA ENSP00000514684.1:n.*495_*496delinsAA
ENST00000699917.1:c.*687_*688delinsAA ENSP00000514685.1:n.*687_*688delinsAA
ENST00000699918.1:c.*739_*740delinsAA ENSP00000514686.1:n.*739_*740delinsAA
ENST00000699919.1:c.*825_*826delinsAA ENSP00000514687.1:n.*825_*826delinsAA
ENST00000699920.1:c.*874_*875delinsAA ENSP00000514688.1:n.*874_*875delinsAA
ENST00000699928.1:c.988+4446_988+4447delinsAA ENSP00000514693.1:n.988+4446_988+4447deli...
ENST00000699929.1:c.*539_*540delinsAA ENSP00000514694.1:n.*539_*540delinsAA
ENST00000699930.1:c.1130_1131delinsAA ENSP00000514695.1:p.Lys377=
ENST00000699931.1:n.2666_2667delinsAA
ENST00000699932.1:c.*456_*457delinsAA ENSP00000514696.1:n.*456_*457delinsAA
ENST00000699951.1:c.*334_*335delinsAA ENSP00000514706.1:n.*334_*335delinsAA
ENST00000699952.1:c.803+9799_803+9800delinsAA ENSP00000514707.1:n.803+9799_803+9800deli...
ENST00000699953.1:c.*345_*346delinsAA ENSP00000514708.1:n.*345_*346delinsAA
ENST00000699954.1:c.*539_*540delinsAA ENSP00000514709.1:n.*539_*540delinsAA
ENST00000265849.12:c.1238_1239delinsAA MANE Select ENSP00000265849.7:p.Lys413=
ENST00000642292.1:c.833_834delinsAA ENSP00000495524.1:p.Lys278=
ENST00000642456.1:c.833_834delinsAA ENSP00000493814.1:p.Lys278=
ENST00000643595.1:c.*637_*638delinsAA ENSP00000494497.1:n.*637_*638delinsAA
ENST00000644110.1:c.920_921delinsAA ENSP00000496392.1:p.Lys307=
ENST00000265849.11:c.1238_1239delinsAA ENSP00000265849.7:p.Lys413=
ENST00000382321.5:c.804-4536_804-4535delinsAA ENSP00000371758.4:n.804-4536_804-4535deli...
ENST00000406569.7:n.1238_1239delinsAA
ENST00000441476.6:c.920_921delinsAA ENSP00000392843.2:p.Lys307=
ENST00000469652.1:n.63-4622_63-4621delinsAA
NM_000535.5:c.1238_1239delinsAA , LRG_161t1:c.1238_1239delinsAA NP_000526.1:p.Lys413=
NR_003085.2:n.1320_1321delinsAA
XM_006715742.2:c.1232_1233delinsAA XP_006715805.1:p.Lys411=
XM_006715744.2:c.305_306delinsAA XP_006715807.1:p.Lys102=
XM_011515427.1:c.1283_1284delinsAA XP_011513729.1:p.Lys428=
XM_011515428.1:c.1127_1128delinsAA XP_011513730.1:p.Lys376=
XM_011515429.1:c.920_921delinsAA XP_011513731.1:p.Lys307=
XM_011515430.1:c.920_921delinsAA XP_011513732.1:p.Lys307=
NM_000535.6:c.1238_1239delinsAA NP_000526.2:p.Lys413=
NM_001322003.1:c.833_834delinsAA NP_001308932.1:p.Lys278=
NM_001322004.1:c.833_834delinsAA NP_001308933.1:p.Lys278=
NM_001322005.1:c.833_834delinsAA NP_001308934.1:p.Lys278=
NM_001322006.1:c.1082_1083delinsAA NP_001308935.1:p.Lys361=
NM_001322007.1:c.920_921delinsAA NP_001308936.1:p.Lys307=
NM_001322008.1:c.920_921delinsAA NP_001308937.1:p.Lys307=
NM_001322009.1:c.833_834delinsAA NP_001308938.1:p.Lys278=
NM_001322010.1:c.677_678delinsAA NP_001308939.1:p.Lys226=
NM_001322011.1:c.305_306delinsAA NP_001308940.1:p.Lys102=
NM_001322012.1:c.305_306delinsAA NP_001308941.1:p.Lys102=
NM_001322013.1:c.665_666delinsAA NP_001308942.1:p.Lys222=
NM_001322014.1:c.1238_1239delinsAA NP_001308943.1:p.Lys413=
NM_001322015.1:c.929_930delinsAA NP_001308944.1:p.Lys310=
NR_136154.1:n.1325_1326delinsAA
XM_006715744.4:c.305_306delinsAA XP_006715807.1:p.Lys102=
XM_017012342.2:c.305_306delinsAA XP_016867831.1:p.Lys102=
XM_024446800.1:c.677_678delinsAA XP_024302568.1:p.Lys226=
NM_000535.7:c.1238_1239delinsAA MANE Select NP_000526.2:p.Lys413=
NM_001322003.2:c.833_834delinsAA NP_001308932.1:p.Lys278=
NM_001322004.2:c.833_834delinsAA NP_001308933.1:p.Lys278=
NM_001322005.2:c.833_834delinsAA NP_001308934.1:p.Lys278=
NM_001322006.2:c.1082_1083delinsAA NP_001308935.1:p.Lys361=
NM_001322008.2:c.920_921delinsAA NP_001308937.1:p.Lys307=
NM_001322009.2:c.833_834delinsAA NP_001308938.1:p.Lys278=
NM_001322010.2:c.677_678delinsAA NP_001308939.1:p.Lys226=
NM_001322011.2:c.305_306delinsAA NP_001308940.1:p.Lys102=
NM_001322012.2:c.305_306delinsAA NP_001308941.1:p.Lys102=
NM_001322013.2:c.665_666delinsAA NP_001308942.1:p.Lys222=
NM_001322014.2:c.1238_1239delinsAA NP_001308943.1:p.Lys413=
NM_001322015.2:c.929_930delinsAA NP_001308944.1:p.Lys310=
NM_001322007.2:c.920_921delinsAA NP_001308936.1:p.Lys307=