Canonical Allele Identifier: CA1685229714

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987336_5987340delinsAACTC , CM000669.2:g.5987336_5987340delinsAACTC	GRCh38
NC_000007.13:g.6026967_6026971delinsAACTC , CM000669.1:g.6026967_6026971delinsAACTC	GRCh37
NC_000007.12:g.5993493_5993497delinsAACTC	NCBI36
NG_008466.1:g.26767_26771delinsGAGTT , LRG_161:g.26767_26771delinsGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*821_*825delinsGAGTT	ENSP00000514615.2:n.*821_*825delinsGAGTT
ENST00000699840.2:c.1422_1426delinsGAGTT	ENSP00000514638.2:p.Val474=
ENST00000699930.2:c.1317_1321delinsGAGTT	ENSP00000514695.2:p.Val439=
ENST00000406569.8:c.1425_1429delinsGAGTT	ENSP00000514464.1:p.Val475=
ENST00000644110.2:c.*1019_*1023delinsGAGTT	ENSP00000496392.2:n.*1019_*1023delinsGAGTT
ENST00000699752.1:c.1269_1273delinsGAGTT	ENSP00000514561.1:p.Val423=
ENST00000699753.1:c.*846_*850delinsGAGTT	ENSP00000514562.1:n.*846_*850delinsGAGTT
ENST00000699754.1:c.1227_1231delinsGAGTT	ENSP00000514563.1:p.Val409=
ENST00000699755.1:c.*824_*828delinsGAGTT	ENSP00000514564.1:n.*824_*828delinsGAGTT
ENST00000699756.1:c.*1012_*1016delinsGAGTT	ENSP00000514565.1:n.*1012_*1016delinsGAGTT
ENST00000699757.1:c.*682_*686delinsGAGTT	ENSP00000514566.1:n.*682_*686delinsGAGTT
ENST00000699758.1:c.*682_*686delinsGAGTT	ENSP00000514567.1:n.*682_*686delinsGAGTT
ENST00000699759.1:n.2279_2283delinsGAGTT
ENST00000699760.1:c.1107_1111delinsGAGTT	ENSP00000514568.1:p.Val369=
ENST00000699761.1:c.1020_1024delinsGAGTT	ENSP00000514569.1:p.Val340=
ENST00000699762.1:c.852_856delinsGAGTT	ENSP00000514570.1:p.Val284=
ENST00000699763.1:c.*515_*519delinsGAGTT	ENSP00000514571.1:n.*515_*519delinsGAGTT
ENST00000699764.1:c.1425_1429delinsGAGTT	ENSP00000514572.1:p.Val475=
ENST00000699765.1:c.*521_*525delinsGAGTT	ENSP00000514573.1:n.*521_*525delinsGAGTT
ENST00000699766.1:c.1425_1429delinsGAGTT	ENSP00000514574.1:p.Val475=
ENST00000699767.1:c.1425_1429delinsGAGTT	ENSP00000514575.1:p.Val475=
ENST00000699768.1:c.1425_1429delinsGAGTT	ENSP00000514576.1:p.Val475=
ENST00000699811.1:c.1020_1024delinsGAGTT	ENSP00000514614.1:p.Val340=
ENST00000699813.1:n.1538_1542delinsGAGTT
ENST00000699814.1:c.1048_1052delinsGAGTT
ENST00000699815.1:c.*956_*960delinsGAGTT	ENSP00000514616.1:n.*956_*960delinsGAGTT
ENST00000699816.1:c.*315_*319delinsGAGTT	ENSP00000514617.1:n.*315_*319delinsGAGTT
ENST00000699817.1:c.*1019_*1023delinsGAGTT	ENSP00000514618.1:n.*1019_*1023delinsGAGTT
ENST00000699818.1:c.1020_1024delinsGAGTT	ENSP00000514619.1:p.Val340=
ENST00000699819.1:c.*582_*586delinsGAGTT	ENSP00000514620.1:n.*582_*586delinsGAGTT
ENST00000699820.1:c.1144+2460_1144+2464delinsGAGTT	ENSP00000514621.1:n.1144+2460_1144+2464delinsGAGTT
ENST00000699821.1:c.1020_1024delinsGAGTT	ENSP00000514622.1:p.Val340=
ENST00000699822.1:c.*877_*881delinsGAGTT	ENSP00000514623.1:n.*877_*881delinsGAGTT
ENST00000699823.1:c.1020_1024delinsGAGTT	ENSP00000514624.1:p.Val340=
ENST00000699824.1:c.*928_*932delinsGAGTT	ENSP00000514625.1:n.*928_*932delinsGAGTT
ENST00000699825.1:c.864_868delinsGAGTT	ENSP00000514626.1:p.Val288=
ENST00000699826.1:c.*824_*828delinsGAGTT	ENSP00000514627.1:n.*824_*828delinsGAGTT
ENST00000699827.1:c.1257_1261delinsGAGTT	ENSP00000514628.1:p.Val419=
ENST00000699828.1:c.*515_*519delinsGAGTT	ENSP00000514629.1:n.*515_*519delinsGAGTT
ENST00000699833.1:n.3197_3201delinsGAGTT
ENST00000699837.1:c.1020_1024delinsGAGTT	ENSP00000514635.1:p.Val340=
ENST00000699838.1:c.*1325_*1329delinsGAGTT	ENSP00000514636.1:n.*1325_*1329delinsGAGTT
ENST00000699839.1:c.1611_1615delinsGAGTT	ENSP00000514637.1:p.Val537=
ENST00000699916.1:c.*682_*686delinsGAGTT	ENSP00000514684.1:n.*682_*686delinsGAGTT
ENST00000699917.1:c.*874_*878delinsGAGTT	ENSP00000514685.1:n.*874_*878delinsGAGTT
ENST00000699918.1:c.*926_*930delinsGAGTT	ENSP00000514686.1:n.*926_*930delinsGAGTT
ENST00000699919.1:c.*1012_*1016delinsGAGTT	ENSP00000514687.1:n.*1012_*1016delinsGAGTT
ENST00000699920.1:c.*1061_*1065delinsGAGTT	ENSP00000514688.1:n.*1061_*1065delinsGAGTT
ENST00000699928.1:c.989-4349_989-4345delinsGAGTT	ENSP00000514693.1:n.989-4349_989-4345delinsGAGTT
ENST00000699929.1:c.*726_*730delinsGAGTT	ENSP00000514694.1:n.*726_*730delinsGAGTT
ENST00000699930.1:c.1317_1321delinsGAGTT	ENSP00000514695.1:p.Val439=
ENST00000699931.1:n.2853_2857delinsGAGTT
ENST00000699951.1:c.*521_*525delinsGAGTT	ENSP00000514706.1:n.*521_*525delinsGAGTT
ENST00000699952.1:c.803+9986_803+9990delinsGAGTT	ENSP00000514707.1:n.803+9986_803+9990delinsGAGTT
ENST00000699953.1:c.*532_*536delinsGAGTT	ENSP00000514708.1:n.*532_*536delinsGAGTT
ENST00000699954.1:c.*726_*730delinsGAGTT	ENSP00000514709.1:n.*726_*730delinsGAGTT
ENST00000265849.12:c.1425_1429delinsGAGTT MANE Select	ENSP00000265849.7:p.Val475=
ENST00000642292.1:c.1020_1024delinsGAGTT	ENSP00000495524.1:p.Val340=
ENST00000642456.1:c.1020_1024delinsGAGTT	ENSP00000493814.1:p.Val340=
ENST00000643595.1:c.*824_*828delinsGAGTT	ENSP00000494497.1:n.*824_*828delinsGAGTT
ENST00000644110.1:c.1107_1111delinsGAGTT	ENSP00000496392.1:p.Val369=
ENST00000265849.11:c.1425_1429delinsGAGTT	ENSP00000265849.7:p.Val475=
ENST00000382321.5:c.804-4349_804-4345delinsGAGTT	ENSP00000371758.4:n.804-4349_804-4345delinsGAGTT
ENST00000406569.7:n.1425_1429delinsGAGTT
ENST00000441476.6:c.1107_1111delinsGAGTT	ENSP00000392843.2:p.Val369=
ENST00000469652.1:n.63-4435_63-4431delinsGAGTT
NM_000535.5:c.1425_1429delinsGAGTT , LRG_161t1:c.1425_1429delinsGAGTT	NP_000526.1:p.Val475=
NR_003085.2:n.1507_1511delinsGAGTT
XM_006715742.2:c.1419_1423delinsGAGTT	XP_006715805.1:p.Val473=
XM_006715744.2:c.492_496delinsGAGTT	XP_006715807.1:p.Val164=
XM_011515427.1:c.1470_1474delinsGAGTT	XP_011513729.1:p.Val490=
XM_011515428.1:c.1314_1318delinsGAGTT	XP_011513730.1:p.Val438=
XM_011515429.1:c.1107_1111delinsGAGTT	XP_011513731.1:p.Val369=
XM_011515430.1:c.1107_1111delinsGAGTT	XP_011513732.1:p.Val369=
NM_000535.6:c.1425_1429delinsGAGTT	NP_000526.2:p.Val475=
NM_001322003.1:c.1020_1024delinsGAGTT	NP_001308932.1:p.Val340=
NM_001322004.1:c.1020_1024delinsGAGTT	NP_001308933.1:p.Val340=
NM_001322005.1:c.1020_1024delinsGAGTT	NP_001308934.1:p.Val340=
NM_001322006.1:c.1269_1273delinsGAGTT	NP_001308935.1:p.Val423=
NM_001322007.1:c.1107_1111delinsGAGTT	NP_001308936.1:p.Val369=
NM_001322008.1:c.1107_1111delinsGAGTT	NP_001308937.1:p.Val369=
NM_001322009.1:c.1020_1024delinsGAGTT	NP_001308938.1:p.Val340=
NM_001322010.1:c.864_868delinsGAGTT	NP_001308939.1:p.Val288=
NM_001322011.1:c.492_496delinsGAGTT	NP_001308940.1:p.Val164=
NM_001322012.1:c.492_496delinsGAGTT	NP_001308941.1:p.Val164=
NM_001322013.1:c.852_856delinsGAGTT	NP_001308942.1:p.Val284=
NM_001322014.1:c.1425_1429delinsGAGTT	NP_001308943.1:p.Val475=
NM_001322015.1:c.1116_1120delinsGAGTT	NP_001308944.1:p.Val372=
NR_136154.1:n.1512_1516delinsGAGTT
XM_006715744.4:c.492_496delinsGAGTT	XP_006715807.1:p.Val164=
XM_017012342.2:c.492_496delinsGAGTT	XP_016867831.1:p.Val164=
XM_024446800.1:c.864_868delinsGAGTT	XP_024302568.1:p.Val288=
NM_000535.7:c.1425_1429delinsGAGTT MANE Select	NP_000526.2:p.Val475=
NM_001322003.2:c.1020_1024delinsGAGTT	NP_001308932.1:p.Val340=
NM_001322004.2:c.1020_1024delinsGAGTT	NP_001308933.1:p.Val340=
NM_001322005.2:c.1020_1024delinsGAGTT	NP_001308934.1:p.Val340=
NM_001322006.2:c.1269_1273delinsGAGTT	NP_001308935.1:p.Val423=
NM_001322008.2:c.1107_1111delinsGAGTT	NP_001308937.1:p.Val369=
NM_001322009.2:c.1020_1024delinsGAGTT	NP_001308938.1:p.Val340=
NM_001322010.2:c.864_868delinsGAGTT	NP_001308939.1:p.Val288=
NM_001322011.2:c.492_496delinsGAGTT	NP_001308940.1:p.Val164=
NM_001322012.2:c.492_496delinsGAGTT	NP_001308941.1:p.Val164=
NM_001322013.2:c.852_856delinsGAGTT	NP_001308942.1:p.Val284=
NM_001322014.2:c.1425_1429delinsGAGTT	NP_001308943.1:p.Val475=
NM_001322015.2:c.1116_1120delinsGAGTT	NP_001308944.1:p.Val372=
NM_001322007.2:c.1107_1111delinsGAGTT	NP_001308936.1:p.Val369=