Canonical Allele Identifier: CA1685231033

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987543_5987544delinsTC , CM000669.2:g.5987543_5987544delinsTC	GRCh38
NC_000007.13:g.6027174_6027175delinsTC , CM000669.1:g.6027174_6027175delinsTC	GRCh37
NC_000007.12:g.5993700_5993701delinsTC	NCBI36
NG_008466.1:g.26563_26564delinsGA , LRG_161:g.26563_26564delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*617_*618delinsGA	ENSP00000514615.2:n.*617_*618delinsGA
ENST00000699840.2:c.1218_1219delinsGA	ENSP00000514638.2:p.Arg406=
ENST00000699930.2:c.1113_1114delinsGA	ENSP00000514695.2:p.Arg371=
ENST00000406569.8:c.1221_1222delinsGA	ENSP00000514464.1:p.Arg407=
ENST00000644110.2:c.*815_*816delinsGA	ENSP00000496392.2:n.*815_*816delinsGA
ENST00000699752.1:c.1065_1066delinsGA	ENSP00000514561.1:p.Arg355=
ENST00000699753.1:c.*642_*643delinsGA	ENSP00000514562.1:n.*642_*643delinsGA
ENST00000699754.1:c.1023_1024delinsGA	ENSP00000514563.1:p.Arg341=
ENST00000699755.1:c.*620_*621delinsGA	ENSP00000514564.1:n.*620_*621delinsGA
ENST00000699756.1:c.*808_*809delinsGA	ENSP00000514565.1:n.*808_*809delinsGA
ENST00000699757.1:c.*478_*479delinsGA	ENSP00000514566.1:n.*478_*479delinsGA
ENST00000699758.1:c.*478_*479delinsGA	ENSP00000514567.1:n.*478_*479delinsGA
ENST00000699759.1:n.2075_2076delinsGA
ENST00000699760.1:c.903_904delinsGA	ENSP00000514568.1:p.Arg301=
ENST00000699761.1:c.816_817delinsGA	ENSP00000514569.1:p.Arg272=
ENST00000699762.1:c.648_649delinsGA	ENSP00000514570.1:p.Arg216=
ENST00000699763.1:c.*311_*312delinsGA	ENSP00000514571.1:n.*311_*312delinsGA
ENST00000699764.1:c.1221_1222delinsGA	ENSP00000514572.1:p.Arg407=
ENST00000699765.1:c.*317_*318delinsGA	ENSP00000514573.1:n.*317_*318delinsGA
ENST00000699766.1:c.1221_1222delinsGA	ENSP00000514574.1:p.Arg407=
ENST00000699767.1:c.1221_1222delinsGA	ENSP00000514575.1:p.Arg407=
ENST00000699768.1:c.1221_1222delinsGA	ENSP00000514576.1:p.Arg407=
ENST00000699811.1:c.816_817delinsGA	ENSP00000514614.1:p.Arg272=
ENST00000699813.1:n.1334_1335delinsGA
ENST00000699814.1:c.844_845delinsGA
ENST00000699815.1:c.*752_*753delinsGA	ENSP00000514616.1:n.*752_*753delinsGA
ENST00000699816.1:c.*111_*112delinsGA	ENSP00000514617.1:n.*111_*112delinsGA
ENST00000699817.1:c.*815_*816delinsGA	ENSP00000514618.1:n.*815_*816delinsGA
ENST00000699818.1:c.816_817delinsGA	ENSP00000514619.1:p.Arg272=
ENST00000699819.1:c.*378_*379delinsGA	ENSP00000514620.1:n.*378_*379delinsGA
ENST00000699820.1:c.1144+2256_1144+2257delinsGA	ENSP00000514621.1:n.1144+2256_1144+2257de...
ENST00000699821.1:c.816_817delinsGA	ENSP00000514622.1:p.Arg272=
ENST00000699822.1:c.*673_*674delinsGA	ENSP00000514623.1:n.*673_*674delinsGA
ENST00000699823.1:c.816_817delinsGA	ENSP00000514624.1:p.Arg272=
ENST00000699824.1:c.*724_*725delinsGA	ENSP00000514625.1:n.*724_*725delinsGA
ENST00000699825.1:c.660_661delinsGA	ENSP00000514626.1:p.Arg220=
ENST00000699826.1:c.*620_*621delinsGA	ENSP00000514627.1:n.*620_*621delinsGA
ENST00000699827.1:c.1053_1054delinsGA	ENSP00000514628.1:p.Arg351=
ENST00000699828.1:c.*311_*312delinsGA	ENSP00000514629.1:n.*311_*312delinsGA
ENST00000699829.1:c.*722_*723delinsGA	ENSP00000514630.1:n.*722_*723delinsGA
ENST00000699830.1:c.*620_*621delinsGA	ENSP00000514631.1:n.*620_*621delinsGA
ENST00000699833.1:n.2993_2994delinsGA
ENST00000699837.1:c.816_817delinsGA	ENSP00000514635.1:p.Arg272=
ENST00000699838.1:c.*1121_*1122delinsGA	ENSP00000514636.1:n.*1121_*1122delinsGA
ENST00000699839.1:c.1407_1408delinsGA	ENSP00000514637.1:p.Arg469=
ENST00000699840.1:c.1218_1219delinsGA	ENSP00000514638.1:p.Arg406=
ENST00000699916.1:c.*478_*479delinsGA	ENSP00000514684.1:n.*478_*479delinsGA
ENST00000699917.1:c.*670_*671delinsGA	ENSP00000514685.1:n.*670_*671delinsGA
ENST00000699918.1:c.*722_*723delinsGA	ENSP00000514686.1:n.*722_*723delinsGA
ENST00000699919.1:c.*808_*809delinsGA	ENSP00000514687.1:n.*808_*809delinsGA
ENST00000699920.1:c.*857_*858delinsGA	ENSP00000514688.1:n.*857_*858delinsGA
ENST00000699928.1:c.988+4429_988+4430delinsGA	ENSP00000514693.1:n.988+4429_988+4430deli...
ENST00000699929.1:c.*522_*523delinsGA	ENSP00000514694.1:n.*522_*523delinsGA
ENST00000699930.1:c.1113_1114delinsGA	ENSP00000514695.1:p.Arg371=
ENST00000699931.1:n.2649_2650delinsGA
ENST00000699932.1:c.*439_*440delinsGA	ENSP00000514696.1:n.*439_*440delinsGA
ENST00000699951.1:c.*317_*318delinsGA	ENSP00000514706.1:n.*317_*318delinsGA
ENST00000699952.1:c.803+9782_803+9783delinsGA	ENSP00000514707.1:n.803+9782_803+9783deli...
ENST00000699953.1:c.*328_*329delinsGA	ENSP00000514708.1:n.*328_*329delinsGA
ENST00000699954.1:c.*522_*523delinsGA	ENSP00000514709.1:n.*522_*523delinsGA
ENST00000265849.12:c.1221_1222delinsGA MANE Select	ENSP00000265849.7:p.Arg407=
ENST00000642292.1:c.816_817delinsGA	ENSP00000495524.1:p.Arg272=
ENST00000642456.1:c.816_817delinsGA	ENSP00000493814.1:p.Arg272=
ENST00000643595.1:c.*620_*621delinsGA	ENSP00000494497.1:n.*620_*621delinsGA
ENST00000644110.1:c.903_904delinsGA	ENSP00000496392.1:p.Arg301=
ENST00000265849.11:c.1221_1222delinsGA	ENSP00000265849.7:p.Arg407=
ENST00000382321.5:c.804-4553_804-4552delinsGA	ENSP00000371758.4:n.804-4553_804-4552deli...
ENST00000406569.7:n.1221_1222delinsGA
ENST00000441476.6:c.903_904delinsGA	ENSP00000392843.2:p.Arg301=
ENST00000469652.1:n.63-4639_63-4638delinsGA
NM_000535.5:c.1221_1222delinsGA , LRG_161t1:c.1221_1222delinsGA	NP_000526.1:p.Arg407=
NR_003085.2:n.1303_1304delinsGA
XM_006715742.2:c.1215_1216delinsGA	XP_006715805.1:p.Arg405=
XM_006715744.2:c.288_289delinsGA	XP_006715807.1:p.Arg96=
XM_011515427.1:c.1266_1267delinsGA	XP_011513729.1:p.Arg422=
XM_011515428.1:c.1110_1111delinsGA	XP_011513730.1:p.Arg370=
XM_011515429.1:c.903_904delinsGA	XP_011513731.1:p.Arg301=
XM_011515430.1:c.903_904delinsGA	XP_011513732.1:p.Arg301=
NM_000535.6:c.1221_1222delinsGA	NP_000526.2:p.Arg407=
NM_001322003.1:c.816_817delinsGA	NP_001308932.1:p.Arg272=
NM_001322004.1:c.816_817delinsGA	NP_001308933.1:p.Arg272=
NM_001322005.1:c.816_817delinsGA	NP_001308934.1:p.Arg272=
NM_001322006.1:c.1065_1066delinsGA	NP_001308935.1:p.Arg355=
NM_001322007.1:c.903_904delinsGA	NP_001308936.1:p.Arg301=
NM_001322008.1:c.903_904delinsGA	NP_001308937.1:p.Arg301=
NM_001322009.1:c.816_817delinsGA	NP_001308938.1:p.Arg272=
NM_001322010.1:c.660_661delinsGA	NP_001308939.1:p.Arg220=
NM_001322011.1:c.288_289delinsGA	NP_001308940.1:p.Arg96=
NM_001322012.1:c.288_289delinsGA	NP_001308941.1:p.Arg96=
NM_001322013.1:c.648_649delinsGA	NP_001308942.1:p.Arg216=
NM_001322014.1:c.1221_1222delinsGA	NP_001308943.1:p.Arg407=
NM_001322015.1:c.912_913delinsGA	NP_001308944.1:p.Arg304=
NR_136154.1:n.1308_1309delinsGA
XM_006715744.4:c.288_289delinsGA	XP_006715807.1:p.Arg96=
XM_017012342.2:c.288_289delinsGA	XP_016867831.1:p.Arg96=
XM_024446800.1:c.660_661delinsGA	XP_024302568.1:p.Arg220=
NM_000535.7:c.1221_1222delinsGA MANE Select	NP_000526.2:p.Arg407=
NM_001322003.2:c.816_817delinsGA	NP_001308932.1:p.Arg272=
NM_001322004.2:c.816_817delinsGA	NP_001308933.1:p.Arg272=
NM_001322005.2:c.816_817delinsGA	NP_001308934.1:p.Arg272=
NM_001322006.2:c.1065_1066delinsGA	NP_001308935.1:p.Arg355=
NM_001322008.2:c.903_904delinsGA	NP_001308937.1:p.Arg301=
NM_001322009.2:c.816_817delinsGA	NP_001308938.1:p.Arg272=
NM_001322010.2:c.660_661delinsGA	NP_001308939.1:p.Arg220=
NM_001322011.2:c.288_289delinsGA	NP_001308940.1:p.Arg96=
NM_001322012.2:c.288_289delinsGA	NP_001308941.1:p.Arg96=
NM_001322013.2:c.648_649delinsGA	NP_001308942.1:p.Arg216=
NM_001322014.2:c.1221_1222delinsGA	NP_001308943.1:p.Arg407=
NM_001322015.2:c.912_913delinsGA	NP_001308944.1:p.Arg304=
NM_001322007.2:c.903_904delinsGA	NP_001308936.1:p.Arg301=