Canonical Allele Identifier: CA009396
Community Standard Title: NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5987526_5987527delinsCC , CM000669.2:g.5987526_5987527delinsCC GRCh38
NC_000007.13:g.6027157_6027158delinsCC , CM000669.1:g.6027157_6027158delinsCC GRCh37
NC_000007.12:g.5993683_5993684delinsCC NCBI36
NG_008466.1:g.26580_26581delinsGG , LRG_161:g.26580_26581delinsGG

Transcript Alleles

HGVS Amino-acid Change
NM_000535.7:c.1238_1239delinsGG MANE Select NP_000526.2:p.Lys413Arg
ENST00000265849.12:c.1238_1239delinsGG MANE Select ENSP00000265849.7:p.Lys413Arg
NM_000535.5:c.1238_1239delinsGG , LRG_161t1:c.1238_1239delinsGG NP_000526.1:p.Lys413Arg
NM_000535.6:c.1238_1239delinsGG NP_000526.2:p.Lys413Arg
NM_001322003.1:c.833_834delinsGG NP_001308932.1:p.Lys278Arg
NM_001322003.2:c.833_834delinsGG NP_001308932.1:p.Lys278Arg
NM_001322004.1:c.833_834delinsGG NP_001308933.1:p.Lys278Arg
NM_001322004.2:c.833_834delinsGG NP_001308933.1:p.Lys278Arg
NM_001322005.1:c.833_834delinsGG NP_001308934.1:p.Lys278Arg
NM_001322005.2:c.833_834delinsGG NP_001308934.1:p.Lys278Arg
NM_001322006.1:c.1082_1083delinsGG NP_001308935.1:p.Lys361Arg
NM_001322006.2:c.1082_1083delinsGG NP_001308935.1:p.Lys361Arg
NM_001322007.1:c.920_921delinsGG NP_001308936.1:p.Lys307Arg
NM_001322007.2:c.920_921delinsGG NP_001308936.1:p.Lys307Arg
NM_001322008.1:c.920_921delinsGG NP_001308937.1:p.Lys307Arg
NM_001322008.2:c.920_921delinsGG NP_001308937.1:p.Lys307Arg
NM_001322009.1:c.833_834delinsGG NP_001308938.1:p.Lys278Arg
NM_001322009.2:c.833_834delinsGG NP_001308938.1:p.Lys278Arg
NM_001322010.1:c.677_678delinsGG NP_001308939.1:p.Lys226Arg
NM_001322010.2:c.677_678delinsGG NP_001308939.1:p.Lys226Arg
NM_001322011.1:c.305_306delinsGG NP_001308940.1:p.Lys102Arg
NM_001322011.2:c.305_306delinsGG NP_001308940.1:p.Lys102Arg
NM_001322012.1:c.305_306delinsGG NP_001308941.1:p.Lys102Arg
NM_001322012.2:c.305_306delinsGG NP_001308941.1:p.Lys102Arg
NM_001322013.1:c.665_666delinsGG NP_001308942.1:p.Lys222Arg
NM_001322013.2:c.665_666delinsGG NP_001308942.1:p.Lys222Arg
NM_001322014.1:c.1238_1239delinsGG NP_001308943.1:p.Lys413Arg
NM_001322014.2:c.1238_1239delinsGG NP_001308943.1:p.Lys413Arg
NM_001322015.1:c.929_930delinsGG NP_001308944.1:p.Lys310Arg
NM_001322015.2:c.929_930delinsGG NP_001308944.1:p.Lys310Arg
NR_003085.2:n.1320_1321delinsGG
NR_136154.1:n.1325_1326delinsGG
ENST00000265849.11:c.1238_1239delinsGG ENSP00000265849.7:p.Lys413Arg
ENST00000382321.5:c.804-4536_804-4535delinsGG ENSP00000371758.4:n.804-4536_804-4535delinsGG
ENST00000406569.7:n.1238_1239delinsGG
ENST00000406569.8:c.1238_1239delinsGG ENSP00000514464.1:p.Lys413Arg
ENST00000441476.6:c.920_921delinsGG ENSP00000392843.2:p.Lys307Arg
ENST00000469652.1:n.63-4622_63-4621delinsGG
ENST00000642292.1:c.833_834delinsGG ENSP00000495524.1:p.Lys278Arg
ENST00000642456.1:c.833_834delinsGG ENSP00000493814.1:p.Lys278Arg
ENST00000643595.1:c.*637_*638delinsGG ENSP00000494497.1:n.*637_*638delinsGG
ENST00000644110.1:c.920_921delinsGG ENSP00000496392.1:p.Lys307Arg
ENST00000644110.2:c.*832_*833delinsGG ENSP00000496392.2:n.*832_*833delinsGG
ENST00000699752.1:c.1082_1083delinsGG ENSP00000514561.1:p.Lys361Arg
ENST00000699753.1:c.*659_*660delinsGG ENSP00000514562.1:n.*659_*660delinsGG
ENST00000699754.1:c.1040_1041delinsGG ENSP00000514563.1:p.Lys347Arg
ENST00000699755.1:c.*637_*638delinsGG ENSP00000514564.1:n.*637_*638delinsGG
ENST00000699756.1:c.*825_*826delinsGG ENSP00000514565.1:n.*825_*826delinsGG
ENST00000699757.1:c.*495_*496delinsGG ENSP00000514566.1:n.*495_*496delinsGG
ENST00000699758.1:c.*495_*496delinsGG ENSP00000514567.1:n.*495_*496delinsGG
ENST00000699759.1:n.2092_2093delinsGG
ENST00000699760.1:c.920_921delinsGG ENSP00000514568.1:p.Lys307Arg
ENST00000699761.1:c.833_834delinsGG ENSP00000514569.1:p.Lys278Arg
ENST00000699762.1:c.665_666delinsGG ENSP00000514570.1:p.Lys222Arg
ENST00000699763.1:c.*328_*329delinsGG ENSP00000514571.1:n.*328_*329delinsGG
ENST00000699764.1:c.1238_1239delinsGG ENSP00000514572.1:p.Lys413Arg
ENST00000699765.1:c.*334_*335delinsGG ENSP00000514573.1:n.*334_*335delinsGG
ENST00000699766.1:c.1238_1239delinsGG ENSP00000514574.1:p.Lys413Arg
ENST00000699767.1:c.1238_1239delinsGG ENSP00000514575.1:p.Lys413Arg
ENST00000699768.1:c.1238_1239delinsGG ENSP00000514576.1:p.Lys413Arg
ENST00000699811.1:c.833_834delinsGG ENSP00000514614.1:p.Lys278Arg
ENST00000699813.1:n.1351_1352delinsGG
ENST00000699814.1:c.861_862delinsGG
ENST00000699814.2:c.*634_*635delinsGG ENSP00000514615.2:n.*634_*635delinsGG
ENST00000699815.1:c.*769_*770delinsGG ENSP00000514616.1:n.*769_*770delinsGG
ENST00000699816.1:c.*128_*129delinsGG ENSP00000514617.1:n.*128_*129delinsGG
ENST00000699817.1:c.*832_*833delinsGG ENSP00000514618.1:n.*832_*833delinsGG
ENST00000699818.1:c.833_834delinsGG ENSP00000514619.1:p.Lys278Arg
ENST00000699819.1:c.*395_*396delinsGG ENSP00000514620.1:n.*395_*396delinsGG
ENST00000699820.1:c.1144+2273_1144+2274delinsGG ENSP00000514621.1:n.1144+2273_1144+2274delinsGG
ENST00000699821.1:c.833_834delinsGG ENSP00000514622.1:p.Lys278Arg
ENST00000699822.1:c.*690_*691delinsGG ENSP00000514623.1:n.*690_*691delinsGG
ENST00000699823.1:c.833_834delinsGG ENSP00000514624.1:p.Lys278Arg
ENST00000699824.1:c.*741_*742delinsGG ENSP00000514625.1:n.*741_*742delinsGG
ENST00000699825.1:c.677_678delinsGG ENSP00000514626.1:p.Lys226Arg
ENST00000699826.1:c.*637_*638delinsGG ENSP00000514627.1:n.*637_*638delinsGG
ENST00000699827.1:c.1070_1071delinsGG ENSP00000514628.1:p.Lys357Arg
ENST00000699828.1:c.*328_*329delinsGG ENSP00000514629.1:n.*328_*329delinsGG
ENST00000699829.1:c.*739_*740delinsGG ENSP00000514630.1:n.*739_*740delinsGG
ENST00000699830.1:c.*637_*638delinsGG ENSP00000514631.1:n.*637_*638delinsGG
ENST00000699833.1:n.3010_3011delinsGG
ENST00000699837.1:c.833_834delinsGG ENSP00000514635.1:p.Lys278Arg
ENST00000699838.1:c.*1138_*1139delinsGG ENSP00000514636.1:n.*1138_*1139delinsGG
ENST00000699839.1:c.1424_1425delinsGG ENSP00000514637.1:p.Lys475Arg
ENST00000699840.1:c.1235_1236delinsGG ENSP00000514638.1:p.Lys412Arg
ENST00000699840.2:c.1235_1236delinsGG ENSP00000514638.2:p.Lys412Arg
ENST00000699916.1:c.*495_*496delinsGG ENSP00000514684.1:n.*495_*496delinsGG
ENST00000699917.1:c.*687_*688delinsGG ENSP00000514685.1:n.*687_*688delinsGG
ENST00000699918.1:c.*739_*740delinsGG ENSP00000514686.1:n.*739_*740delinsGG
ENST00000699919.1:c.*825_*826delinsGG ENSP00000514687.1:n.*825_*826delinsGG
ENST00000699920.1:c.*874_*875delinsGG ENSP00000514688.1:n.*874_*875delinsGG
ENST00000699928.1:c.988+4446_988+4447delinsGG ENSP00000514693.1:n.988+4446_988+4447delinsGG
ENST00000699929.1:c.*539_*540delinsGG ENSP00000514694.1:n.*539_*540delinsGG
ENST00000699930.1:c.1130_1131delinsGG ENSP00000514695.1:p.Lys377Arg
ENST00000699930.2:c.1130_1131delinsGG ENSP00000514695.2:p.Lys377Arg
ENST00000699931.1:n.2666_2667delinsGG
ENST00000699932.1:c.*456_*457delinsGG ENSP00000514696.1:n.*456_*457delinsGG
ENST00000699951.1:c.*334_*335delinsGG ENSP00000514706.1:n.*334_*335delinsGG
ENST00000699952.1:c.803+9799_803+9800delinsGG ENSP00000514707.1:n.803+9799_803+9800delinsGG
ENST00000699953.1:c.*345_*346delinsGG ENSP00000514708.1:n.*345_*346delinsGG
ENST00000699954.1:c.*539_*540delinsGG ENSP00000514709.1:n.*539_*540delinsGG
XM_006715742.2:c.1232_1233delinsGG XP_006715805.1:p.Lys411Arg
XM_006715744.2:c.305_306delinsGG XP_006715807.1:p.Lys102Arg
XM_006715744.4:c.305_306delinsGG XP_006715807.1:p.Lys102Arg
XM_011515427.1:c.1283_1284delinsGG XP_011513729.1:p.Lys428Arg
XM_011515428.1:c.1127_1128delinsGG XP_011513730.1:p.Lys376Arg
XM_011515429.1:c.920_921delinsGG XP_011513731.1:p.Lys307Arg
XM_011515430.1:c.920_921delinsGG XP_011513732.1:p.Lys307Arg
XM_017012342.2:c.305_306delinsGG XP_016867831.1:p.Lys102Arg
XM_024446800.1:c.677_678delinsGG XP_024302568.1:p.Lys226Arg