Canonical Allele Identifier: CA1685230515

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987432_5987433delinsTC , CM000669.2:g.5987432_5987433delinsTC	GRCh38
NC_000007.13:g.6027063_6027064delinsTC , CM000669.1:g.6027063_6027064delinsTC	GRCh37
NC_000007.12:g.5993589_5993590delinsTC	NCBI36
NG_008466.1:g.26674_26675delinsGA , LRG_161:g.26674_26675delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*728_*729delinsGA	ENSP00000514615.2:n.*728_*729delinsGA
ENST00000699840.2:c.1329_1330delinsGA	ENSP00000514638.2:p.Arg443=
ENST00000699930.2:c.1224_1225delinsGA	ENSP00000514695.2:p.Arg408=
ENST00000406569.8:c.1332_1333delinsGA	ENSP00000514464.1:p.Arg444=
ENST00000644110.2:c.*926_*927delinsGA	ENSP00000496392.2:n.*926_*927delinsGA
ENST00000699752.1:c.1176_1177delinsGA	ENSP00000514561.1:p.Arg392=
ENST00000699753.1:c.*753_*754delinsGA	ENSP00000514562.1:n.*753_*754delinsGA
ENST00000699754.1:c.1134_1135delinsGA	ENSP00000514563.1:p.Arg378=
ENST00000699755.1:c.*731_*732delinsGA	ENSP00000514564.1:n.*731_*732delinsGA
ENST00000699756.1:c.*919_*920delinsGA	ENSP00000514565.1:n.*919_*920delinsGA
ENST00000699757.1:c.*589_*590delinsGA	ENSP00000514566.1:n.*589_*590delinsGA
ENST00000699758.1:c.*589_*590delinsGA	ENSP00000514567.1:n.*589_*590delinsGA
ENST00000699759.1:n.2186_2187delinsGA
ENST00000699760.1:c.1014_1015delinsGA	ENSP00000514568.1:p.Arg338=
ENST00000699761.1:c.927_928delinsGA	ENSP00000514569.1:p.Arg309=
ENST00000699762.1:c.759_760delinsGA	ENSP00000514570.1:p.Arg253=
ENST00000699763.1:c.*422_*423delinsGA	ENSP00000514571.1:n.*422_*423delinsGA
ENST00000699764.1:c.1332_1333delinsGA	ENSP00000514572.1:p.Arg444=
ENST00000699765.1:c.*428_*429delinsGA	ENSP00000514573.1:n.*428_*429delinsGA
ENST00000699766.1:c.1332_1333delinsGA	ENSP00000514574.1:p.Arg444=
ENST00000699767.1:c.1332_1333delinsGA	ENSP00000514575.1:p.Arg444=
ENST00000699768.1:c.1332_1333delinsGA	ENSP00000514576.1:p.Arg444=
ENST00000699811.1:c.927_928delinsGA	ENSP00000514614.1:p.Arg309=
ENST00000699813.1:n.1445_1446delinsGA
ENST00000699814.1:c.955_956delinsGA
ENST00000699815.1:c.*863_*864delinsGA	ENSP00000514616.1:n.*863_*864delinsGA
ENST00000699816.1:c.*222_*223delinsGA	ENSP00000514617.1:n.*222_*223delinsGA
ENST00000699817.1:c.*926_*927delinsGA	ENSP00000514618.1:n.*926_*927delinsGA
ENST00000699818.1:c.927_928delinsGA	ENSP00000514619.1:p.Arg309=
ENST00000699819.1:c.*489_*490delinsGA	ENSP00000514620.1:n.*489_*490delinsGA
ENST00000699820.1:c.1144+2367_1144+2368delinsGA	ENSP00000514621.1:n.1144+2367_1144+2368delinsGA
ENST00000699821.1:c.927_928delinsGA	ENSP00000514622.1:p.Arg309=
ENST00000699822.1:c.*784_*785delinsGA	ENSP00000514623.1:n.*784_*785delinsGA
ENST00000699823.1:c.927_928delinsGA	ENSP00000514624.1:p.Arg309=
ENST00000699824.1:c.*835_*836delinsGA	ENSP00000514625.1:n.*835_*836delinsGA
ENST00000699825.1:c.771_772delinsGA	ENSP00000514626.1:p.Arg257=
ENST00000699826.1:c.*731_*732delinsGA	ENSP00000514627.1:n.*731_*732delinsGA
ENST00000699827.1:c.1164_1165delinsGA	ENSP00000514628.1:p.Arg388=
ENST00000699828.1:c.*422_*423delinsGA	ENSP00000514629.1:n.*422_*423delinsGA
ENST00000699833.1:n.3104_3105delinsGA
ENST00000699837.1:c.927_928delinsGA	ENSP00000514635.1:p.Arg309=
ENST00000699838.1:c.*1232_*1233delinsGA	ENSP00000514636.1:n.*1232_*1233delinsGA
ENST00000699839.1:c.1518_1519delinsGA	ENSP00000514637.1:p.Arg506=
ENST00000699916.1:c.*589_*590delinsGA	ENSP00000514684.1:n.*589_*590delinsGA
ENST00000699917.1:c.*781_*782delinsGA	ENSP00000514685.1:n.*781_*782delinsGA
ENST00000699918.1:c.*833_*834delinsGA	ENSP00000514686.1:n.*833_*834delinsGA
ENST00000699919.1:c.*919_*920delinsGA	ENSP00000514687.1:n.*919_*920delinsGA
ENST00000699920.1:c.*968_*969delinsGA	ENSP00000514688.1:n.*968_*969delinsGA
ENST00000699928.1:c.989-4442_989-4441delinsGA	ENSP00000514693.1:n.989-4442_989-4441delinsGA
ENST00000699929.1:c.*633_*634delinsGA	ENSP00000514694.1:n.*633_*634delinsGA
ENST00000699930.1:c.1224_1225delinsGA	ENSP00000514695.1:p.Arg408=
ENST00000699931.1:n.2760_2761delinsGA
ENST00000699951.1:c.*428_*429delinsGA	ENSP00000514706.1:n.*428_*429delinsGA
ENST00000699952.1:c.803+9893_803+9894delinsGA	ENSP00000514707.1:n.803+9893_803+9894delinsGA
ENST00000699953.1:c.*439_*440delinsGA	ENSP00000514708.1:n.*439_*440delinsGA
ENST00000699954.1:c.*633_*634delinsGA	ENSP00000514709.1:n.*633_*634delinsGA
ENST00000265849.12:c.1332_1333delinsGA MANE Select	ENSP00000265849.7:p.Arg444=
ENST00000642292.1:c.927_928delinsGA	ENSP00000495524.1:p.Arg309=
ENST00000642456.1:c.927_928delinsGA	ENSP00000493814.1:p.Arg309=
ENST00000643595.1:c.*731_*732delinsGA	ENSP00000494497.1:n.*731_*732delinsGA
ENST00000644110.1:c.1014_1015delinsGA	ENSP00000496392.1:p.Arg338=
ENST00000265849.11:c.1332_1333delinsGA	ENSP00000265849.7:p.Arg444=
ENST00000382321.5:c.804-4442_804-4441delinsGA	ENSP00000371758.4:n.804-4442_804-4441delinsGA
ENST00000406569.7:n.1332_1333delinsGA
ENST00000441476.6:c.1014_1015delinsGA	ENSP00000392843.2:p.Arg338=
ENST00000469652.1:n.63-4528_63-4527delinsGA
NM_000535.5:c.1332_1333delinsGA , LRG_161t1:c.1332_1333delinsGA	NP_000526.1:p.Arg444=
NR_003085.2:n.1414_1415delinsGA
XM_006715742.2:c.1326_1327delinsGA	XP_006715805.1:p.Arg442=
XM_006715744.2:c.399_400delinsGA	XP_006715807.1:p.Arg133=
XM_011515427.1:c.1377_1378delinsGA	XP_011513729.1:p.Arg459=
XM_011515428.1:c.1221_1222delinsGA	XP_011513730.1:p.Arg407=
XM_011515429.1:c.1014_1015delinsGA	XP_011513731.1:p.Arg338=
XM_011515430.1:c.1014_1015delinsGA	XP_011513732.1:p.Arg338=
NM_000535.6:c.1332_1333delinsGA	NP_000526.2:p.Arg444=
NM_001322003.1:c.927_928delinsGA	NP_001308932.1:p.Arg309=
NM_001322004.1:c.927_928delinsGA	NP_001308933.1:p.Arg309=
NM_001322005.1:c.927_928delinsGA	NP_001308934.1:p.Arg309=
NM_001322006.1:c.1176_1177delinsGA	NP_001308935.1:p.Arg392=
NM_001322007.1:c.1014_1015delinsGA	NP_001308936.1:p.Arg338=
NM_001322008.1:c.1014_1015delinsGA	NP_001308937.1:p.Arg338=
NM_001322009.1:c.927_928delinsGA	NP_001308938.1:p.Arg309=
NM_001322010.1:c.771_772delinsGA	NP_001308939.1:p.Arg257=
NM_001322011.1:c.399_400delinsGA	NP_001308940.1:p.Arg133=
NM_001322012.1:c.399_400delinsGA	NP_001308941.1:p.Arg133=
NM_001322013.1:c.759_760delinsGA	NP_001308942.1:p.Arg253=
NM_001322014.1:c.1332_1333delinsGA	NP_001308943.1:p.Arg444=
NM_001322015.1:c.1023_1024delinsGA	NP_001308944.1:p.Arg341=
NR_136154.1:n.1419_1420delinsGA
XM_006715744.4:c.399_400delinsGA	XP_006715807.1:p.Arg133=
XM_017012342.2:c.399_400delinsGA	XP_016867831.1:p.Arg133=
XM_024446800.1:c.771_772delinsGA	XP_024302568.1:p.Arg257=
NM_000535.7:c.1332_1333delinsGA MANE Select	NP_000526.2:p.Arg444=
NM_001322003.2:c.927_928delinsGA	NP_001308932.1:p.Arg309=
NM_001322004.2:c.927_928delinsGA	NP_001308933.1:p.Arg309=
NM_001322005.2:c.927_928delinsGA	NP_001308934.1:p.Arg309=
NM_001322006.2:c.1176_1177delinsGA	NP_001308935.1:p.Arg392=
NM_001322008.2:c.1014_1015delinsGA	NP_001308937.1:p.Arg338=
NM_001322009.2:c.927_928delinsGA	NP_001308938.1:p.Arg309=
NM_001322010.2:c.771_772delinsGA	NP_001308939.1:p.Arg257=
NM_001322011.2:c.399_400delinsGA	NP_001308940.1:p.Arg133=
NM_001322012.2:c.399_400delinsGA	NP_001308941.1:p.Arg133=
NM_001322013.2:c.759_760delinsGA	NP_001308942.1:p.Arg253=
NM_001322014.2:c.1332_1333delinsGA	NP_001308943.1:p.Arg444=
NM_001322015.2:c.1023_1024delinsGA	NP_001308944.1:p.Arg341=
NM_001322007.2:c.1014_1015delinsGA	NP_001308936.1:p.Arg338=