Canonical Allele Identifier: CA1685235539
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5989666_5989667delinsCA , CM000669.2:g.5989666_5989667delinsCA GRCh38
NC_000007.13:g.6029297_6029298delinsCA , CM000669.1:g.6029297_6029298delinsCA GRCh37
NC_000007.12:g.5995823_5995824delinsCA NCBI36
NG_008466.1:g.24440_24441delinsTG , LRG_161:g.24440_24441delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*540+133_*540+134delinsTG ENSP00000514615.2:n.*540+133_*540+134delinsTG
ENST00000699840.2:c.1141+133_1141+134delinsTG ENSP00000514638.2:n.1141+133_1141+134delinsTG
ENST00000699930.2:c.1036+133_1036+134delinsTG ENSP00000514695.2:n.1036+133_1036+134delinsTG
ENST00000406569.8:c.1144+133_1144+134delinsTG ENSP00000514464.1:n.1144+133_1144+134delinsTG
ENST00000644110.2:c.*738+133_*738+134delinsTG ENSP00000496392.2:n.*738+133_*738+134delinsTG
ENST00000699752.1:c.989-2047_989-2046delinsTG ENSP00000514561.1:n.989-2047_989-2046delinsTG
ENST00000699753.1:c.*565+133_*565+134delinsTG ENSP00000514562.1:n.*565+133_*565+134delinsTG
ENST00000699754.1:c.946+133_946+134delinsTG ENSP00000514563.1:n.946+133_946+134delinsTG
ENST00000699755.1:c.*543+133_*543+134delinsTG ENSP00000514564.1:n.*543+133_*543+134delinsTG
ENST00000699756.1:c.*731+133_*731+134delinsTG ENSP00000514565.1:n.*731+133_*731+134delinsTG
ENST00000699757.1:c.*401+133_*401+134delinsTG ENSP00000514566.1:n.*401+133_*401+134delinsTG
ENST00000699758.1:c.*401+133_*401+134delinsTG ENSP00000514567.1:n.*401+133_*401+134delinsTG
ENST00000699759.1:n.1998+133_1998+134delinsTG
ENST00000699760.1:c.826+133_826+134delinsTG ENSP00000514568.1:n.826+133_826+134delinsTG
ENST00000699761.1:c.739+133_739+134delinsTG ENSP00000514569.1:n.739+133_739+134delinsTG
ENST00000699762.1:c.571+133_571+134delinsTG ENSP00000514570.1:n.571+133_571+134delinsTG
ENST00000699763.1:c.*234+133_*234+134delinsTG ENSP00000514571.1:n.*234+133_*234+134delinsTG
ENST00000699764.1:c.1144+133_1144+134delinsTG ENSP00000514572.1:n.1144+133_1144+134delinsTG
ENST00000699765.1:c.*240+133_*240+134delinsTG ENSP00000514573.1:n.*240+133_*240+134delinsTG
ENST00000699766.1:c.1144+133_1144+134delinsTG ENSP00000514574.1:n.1144+133_1144+134delinsTG
ENST00000699767.1:c.1144+133_1144+134delinsTG ENSP00000514575.1:n.1144+133_1144+134delinsTG
ENST00000699768.1:c.1144+133_1144+134delinsTG ENSP00000514576.1:n.1144+133_1144+134delinsTG
ENST00000699811.1:c.739+133_739+134delinsTG ENSP00000514614.1:n.739+133_739+134delinsTG
ENST00000699813.1:n.1257+133_1257+134delinsTG
ENST00000699814.1:c.767+133_767+134delinsTG
ENST00000699815.1:c.*636+133_*636+134delinsTG ENSP00000514616.1:n.*636+133_*636+134delinsTG
ENST00000699816.1:c.739+133_739+134delinsTG ENSP00000514617.1:n.739+133_739+134delinsTG
ENST00000699817.1:c.*738+133_*738+134delinsTG ENSP00000514618.1:n.*738+133_*738+134delinsTG
ENST00000699818.1:c.739+133_739+134delinsTG ENSP00000514619.1:n.739+133_739+134delinsTG
ENST00000699819.1:c.*301+133_*301+134delinsTG ENSP00000514620.1:n.*301+133_*301+134delinsTG
ENST00000699820.1:c.1144+133_1144+134delinsTG ENSP00000514621.1:n.1144+133_1144+134delinsTG
ENST00000699821.1:c.739+133_739+134delinsTG ENSP00000514622.1:n.739+133_739+134delinsTG
ENST00000699822.1:c.*596+133_*596+134delinsTG ENSP00000514623.1:n.*596+133_*596+134delinsTG
ENST00000699823.1:c.739+133_739+134delinsTG ENSP00000514624.1:n.739+133_739+134delinsTG
ENST00000699824.1:c.*647+133_*647+134delinsTG ENSP00000514625.1:n.*647+133_*647+134delinsTG
ENST00000699825.1:c.584-2047_584-2046delinsTG ENSP00000514626.1:n.584-2047_584-2046delinsTG
ENST00000699826.1:c.*543+133_*543+134delinsTG ENSP00000514627.1:n.*543+133_*543+134delinsTG
ENST00000699827.1:c.976+133_976+134delinsTG ENSP00000514628.1:n.976+133_976+134delinsTG
ENST00000699828.1:c.*234+133_*234+134delinsTG ENSP00000514629.1:n.*234+133_*234+134delinsTG
ENST00000699829.1:c.*645+133_*645+134delinsTG ENSP00000514630.1:n.*645+133_*645+134delinsTG
ENST00000699830.1:c.*543+133_*543+134delinsTG ENSP00000514631.1:n.*543+133_*543+134delinsTG
ENST00000699833.1:n.2916+133_2916+134delinsTG
ENST00000699837.1:c.739+133_739+134delinsTG ENSP00000514635.1:n.739+133_739+134delinsTG
ENST00000699838.1:c.*1044+133_*1044+134delinsTG ENSP00000514636.1:n.*1044+133_*1044+134delinsTG
ENST00000699839.1:c.1330+133_1330+134delinsTG ENSP00000514637.1:n.1330+133_1330+134delinsTG
ENST00000699840.1:c.1141+133_1141+134delinsTG ENSP00000514638.1:n.1141+133_1141+134delinsTG
ENST00000699916.1:c.*401+133_*401+134delinsTG ENSP00000514684.1:n.*401+133_*401+134delinsTG
ENST00000699917.1:c.*593+133_*593+134delinsTG ENSP00000514685.1:n.*593+133_*593+134delinsTG
ENST00000699918.1:c.*645+133_*645+134delinsTG ENSP00000514686.1:n.*645+133_*645+134delinsTG
ENST00000699919.1:c.*731+133_*731+134delinsTG ENSP00000514687.1:n.*731+133_*731+134delinsTG
ENST00000699920.1:c.*780+133_*780+134delinsTG ENSP00000514688.1:n.*780+133_*780+134delinsTG
ENST00000699928.1:c.988+2306_988+2307delinsTG ENSP00000514693.1:n.988+2306_988+2307delinsTG
ENST00000699929.1:c.*445+133_*445+134delinsTG ENSP00000514694.1:n.*445+133_*445+134delinsTG
ENST00000699930.1:c.1036+133_1036+134delinsTG ENSP00000514695.1:n.1036+133_1036+134delinsTG
ENST00000699931.1:n.2572+133_2572+134delinsTG
ENST00000699932.1:c.*362+133_*362+134delinsTG ENSP00000514696.1:n.*362+133_*362+134delinsTG
ENST00000699951.1:c.*240+133_*240+134delinsTG ENSP00000514706.1:n.*240+133_*240+134delinsTG
ENST00000699952.1:c.803+7659_803+7660delinsTG ENSP00000514707.1:n.803+7659_803+7660delinsTG
ENST00000699953.1:c.*251+133_*251+134delinsTG ENSP00000514708.1:n.*251+133_*251+134delinsTG
ENST00000699954.1:c.*445+133_*445+134delinsTG ENSP00000514709.1:n.*445+133_*445+134delinsTG
ENST00000265849.12:c.1144+133_1144+134delinsTG MANE Select ENSP00000265849.7:n.1144+133_1144+134delinsTG
ENST00000642292.1:c.739+133_739+134delinsTG ENSP00000495524.1:n.739+133_739+134delinsTG
ENST00000642456.1:c.739+133_739+134delinsTG ENSP00000493814.1:n.739+133_739+134delinsTG
ENST00000643595.1:c.*543+133_*543+134delinsTG ENSP00000494497.1:n.*543+133_*543+134delinsTG
ENST00000644110.1:c.826+133_826+134delinsTG ENSP00000496392.1:n.826+133_826+134delinsTG
ENST00000265849.11:c.1144+133_1144+134delinsTG ENSP00000265849.7:n.1144+133_1144+134delinsTG
ENST00000382321.5:c.804-6676_804-6675delinsTG ENSP00000371758.4:n.804-6676_804-6675delinsTG
ENST00000406569.7:n.1144+133_1144+134delinsTG
ENST00000441476.6:c.826+133_826+134delinsTG ENSP00000392843.2:n.826+133_826+134delinsTG
ENST00000469652.1:n.63-6762_63-6761delinsTG
NM_000535.5:c.1144+133_1144+134delinsTG , LRG_161t1:c.1144+133_1144+134delinsTG NP_000526.1:n.1144+133_1144+134delinsTG
NR_003085.2:n.1226+133_1226+134delinsTG
XM_006715742.2:c.1138+133_1138+134delinsTG XP_006715805.1:n.1138+133_1138+134delinsTG
XM_006715744.2:c.211+133_211+134delinsTG XP_006715807.1:n.211+133_211+134delinsTG
XM_011515427.1:c.1189+133_1189+134delinsTG XP_011513729.1:n.1189+133_1189+134delinsTG
XM_011515428.1:c.1034-2047_1034-2046delinsTG XP_011513730.1:n.1034-2047_1034-2046delinsTG
XM_011515429.1:c.826+133_826+134delinsTG XP_011513731.1:n.826+133_826+134delinsTG
XM_011515430.1:c.826+133_826+134delinsTG XP_011513732.1:n.826+133_826+134delinsTG
NM_000535.6:c.1144+133_1144+134delinsTG NP_000526.2:n.1144+133_1144+134delinsTG
NM_001322003.1:c.739+133_739+134delinsTG NP_001308932.1:n.739+133_739+134delinsTG
NM_001322004.1:c.739+133_739+134delinsTG NP_001308933.1:n.739+133_739+134delinsTG
NM_001322005.1:c.739+133_739+134delinsTG NP_001308934.1:n.739+133_739+134delinsTG
NM_001322006.1:c.989-2047_989-2046delinsTG NP_001308935.1:n.989-2047_989-2046delinsTG
NM_001322007.1:c.826+133_826+134delinsTG NP_001308936.1:n.826+133_826+134delinsTG
NM_001322008.1:c.826+133_826+134delinsTG NP_001308937.1:n.826+133_826+134delinsTG
NM_001322009.1:c.739+133_739+134delinsTG NP_001308938.1:n.739+133_739+134delinsTG
NM_001322010.1:c.584-2047_584-2046delinsTG NP_001308939.1:n.584-2047_584-2046delinsTG
NM_001322011.1:c.211+133_211+134delinsTG NP_001308940.1:n.211+133_211+134delinsTG
NM_001322012.1:c.211+133_211+134delinsTG NP_001308941.1:n.211+133_211+134delinsTG
NM_001322013.1:c.571+133_571+134delinsTG NP_001308942.1:n.571+133_571+134delinsTG
NM_001322014.1:c.1144+133_1144+134delinsTG NP_001308943.1:n.1144+133_1144+134delinsTG
NM_001322015.1:c.835+133_835+134delinsTG NP_001308944.1:n.835+133_835+134delinsTG
NR_136154.1:n.1231+133_1231+134delinsTG
XM_006715744.4:c.211+133_211+134delinsTG XP_006715807.1:n.211+133_211+134delinsTG
XM_017012342.2:c.211+133_211+134delinsTG XP_016867831.1:n.211+133_211+134delinsTG
XM_024446800.1:c.584-2047_584-2046delinsTG XP_024302568.1:n.584-2047_584-2046delinsTG
NM_000535.7:c.1144+133_1144+134delinsTG MANE Select NP_000526.2:n.1144+133_1144+134delinsTG
NM_001322003.2:c.739+133_739+134delinsTG NP_001308932.1:n.739+133_739+134delinsTG
NM_001322004.2:c.739+133_739+134delinsTG NP_001308933.1:n.739+133_739+134delinsTG
NM_001322005.2:c.739+133_739+134delinsTG NP_001308934.1:n.739+133_739+134delinsTG
NM_001322006.2:c.989-2047_989-2046delinsTG NP_001308935.1:n.989-2047_989-2046delinsTG
NM_001322008.2:c.826+133_826+134delinsTG NP_001308937.1:n.826+133_826+134delinsTG
NM_001322009.2:c.739+133_739+134delinsTG NP_001308938.1:n.739+133_739+134delinsTG
NM_001322010.2:c.584-2047_584-2046delinsTG NP_001308939.1:n.584-2047_584-2046delinsTG
NM_001322011.2:c.211+133_211+134delinsTG NP_001308940.1:n.211+133_211+134delinsTG
NM_001322012.2:c.211+133_211+134delinsTG NP_001308941.1:n.211+133_211+134delinsTG
NM_001322013.2:c.571+133_571+134delinsTG NP_001308942.1:n.571+133_571+134delinsTG
NM_001322014.2:c.1144+133_1144+134delinsTG NP_001308943.1:n.1144+133_1144+134delinsTG
NM_001322015.2:c.835+133_835+134delinsTG NP_001308944.1:n.835+133_835+134delinsTG
NM_001322007.2:c.826+133_826+134delinsTG NP_001308936.1:n.826+133_826+134delinsTG