Canonical Allele Identifier: CA1685229764

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987345_5987347delinsCCT , CM000669.2:g.5987345_5987347delinsCCT	GRCh38
NC_000007.13:g.6026976_6026978delinsCCT , CM000669.1:g.6026976_6026978delinsCCT	GRCh37
NC_000007.12:g.5993502_5993504delinsCCT	NCBI36
NG_008466.1:g.26760_26762delinsAGG , LRG_161:g.26760_26762delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*814_*816delinsAGG	ENSP00000514615.2:n.*814_*816delinsAGG
ENST00000699840.2:c.1415_1417delinsAGG	ENSP00000514638.2:p.Glu472=
ENST00000699930.2:c.1310_1312delinsAGG	ENSP00000514695.2:p.Glu437=
ENST00000406569.8:c.1418_1420delinsAGG	ENSP00000514464.1:p.Glu473=
ENST00000644110.2:c.*1012_*1014delinsAGG	ENSP00000496392.2:n.*1012_*1014delinsAGG
ENST00000699752.1:c.1262_1264delinsAGG	ENSP00000514561.1:p.Glu421=
ENST00000699753.1:c.*839_*841delinsAGG	ENSP00000514562.1:n.*839_*841delinsAGG
ENST00000699754.1:c.1220_1222delinsAGG	ENSP00000514563.1:p.Glu407=
ENST00000699755.1:c.*817_*819delinsAGG	ENSP00000514564.1:n.*817_*819delinsAGG
ENST00000699756.1:c.*1005_*1007delinsAGG	ENSP00000514565.1:n.*1005_*1007delinsAGG
ENST00000699757.1:c.*675_*677delinsAGG	ENSP00000514566.1:n.*675_*677delinsAGG
ENST00000699758.1:c.*675_*677delinsAGG	ENSP00000514567.1:n.*675_*677delinsAGG
ENST00000699759.1:n.2272_2274delinsAGG
ENST00000699760.1:c.1100_1102delinsAGG	ENSP00000514568.1:p.Glu367=
ENST00000699761.1:c.1013_1015delinsAGG	ENSP00000514569.1:p.Glu338=
ENST00000699762.1:c.845_847delinsAGG	ENSP00000514570.1:p.Glu282=
ENST00000699763.1:c.*508_*510delinsAGG	ENSP00000514571.1:n.*508_*510delinsAGG
ENST00000699764.1:c.1418_1420delinsAGG	ENSP00000514572.1:p.Glu473=
ENST00000699765.1:c.*514_*516delinsAGG	ENSP00000514573.1:n.*514_*516delinsAGG
ENST00000699766.1:c.1418_1420delinsAGG	ENSP00000514574.1:p.Glu473=
ENST00000699767.1:c.1418_1420delinsAGG	ENSP00000514575.1:p.Glu473=
ENST00000699768.1:c.1418_1420delinsAGG	ENSP00000514576.1:p.Glu473=
ENST00000699811.1:c.1013_1015delinsAGG	ENSP00000514614.1:p.Glu338=
ENST00000699813.1:n.1531_1533delinsAGG
ENST00000699814.1:c.1041_1043delinsAGG
ENST00000699815.1:c.*949_*951delinsAGG	ENSP00000514616.1:n.*949_*951delinsAGG
ENST00000699816.1:c.*308_*310delinsAGG	ENSP00000514617.1:n.*308_*310delinsAGG
ENST00000699817.1:c.*1012_*1014delinsAGG	ENSP00000514618.1:n.*1012_*1014delinsAGG
ENST00000699818.1:c.1013_1015delinsAGG	ENSP00000514619.1:p.Glu338=
ENST00000699819.1:c.*575_*577delinsAGG	ENSP00000514620.1:n.*575_*577delinsAGG
ENST00000699820.1:c.1144+2453_1144+2455delinsAGG	ENSP00000514621.1:n.1144+2453_1144+2455delinsAGG
ENST00000699821.1:c.1013_1015delinsAGG	ENSP00000514622.1:p.Glu338=
ENST00000699822.1:c.*870_*872delinsAGG	ENSP00000514623.1:n.*870_*872delinsAGG
ENST00000699823.1:c.1013_1015delinsAGG	ENSP00000514624.1:p.Glu338=
ENST00000699824.1:c.*921_*923delinsAGG	ENSP00000514625.1:n.*921_*923delinsAGG
ENST00000699825.1:c.857_859delinsAGG	ENSP00000514626.1:p.Glu286=
ENST00000699826.1:c.*817_*819delinsAGG	ENSP00000514627.1:n.*817_*819delinsAGG
ENST00000699827.1:c.1250_1252delinsAGG	ENSP00000514628.1:p.Glu417=
ENST00000699828.1:c.*508_*510delinsAGG	ENSP00000514629.1:n.*508_*510delinsAGG
ENST00000699833.1:n.3190_3192delinsAGG
ENST00000699837.1:c.1013_1015delinsAGG	ENSP00000514635.1:p.Glu338=
ENST00000699838.1:c.*1318_*1320delinsAGG	ENSP00000514636.1:n.*1318_*1320delinsAGG
ENST00000699839.1:c.1604_1606delinsAGG	ENSP00000514637.1:p.Glu535=
ENST00000699916.1:c.*675_*677delinsAGG	ENSP00000514684.1:n.*675_*677delinsAGG
ENST00000699917.1:c.*867_*869delinsAGG	ENSP00000514685.1:n.*867_*869delinsAGG
ENST00000699918.1:c.*919_*921delinsAGG	ENSP00000514686.1:n.*919_*921delinsAGG
ENST00000699919.1:c.*1005_*1007delinsAGG	ENSP00000514687.1:n.*1005_*1007delinsAGG
ENST00000699920.1:c.*1054_*1056delinsAGG	ENSP00000514688.1:n.*1054_*1056delinsAGG
ENST00000699928.1:c.989-4356_989-4354delinsAGG	ENSP00000514693.1:n.989-4356_989-4354delinsAGG
ENST00000699929.1:c.*719_*721delinsAGG	ENSP00000514694.1:n.*719_*721delinsAGG
ENST00000699930.1:c.1310_1312delinsAGG	ENSP00000514695.1:p.Glu437=
ENST00000699931.1:n.2846_2848delinsAGG
ENST00000699951.1:c.*514_*516delinsAGG	ENSP00000514706.1:n.*514_*516delinsAGG
ENST00000699952.1:c.803+9979_803+9981delinsAGG	ENSP00000514707.1:n.803+9979_803+9981delinsAGG
ENST00000699953.1:c.*525_*527delinsAGG	ENSP00000514708.1:n.*525_*527delinsAGG
ENST00000699954.1:c.*719_*721delinsAGG	ENSP00000514709.1:n.*719_*721delinsAGG
ENST00000265849.12:c.1418_1420delinsAGG MANE Select	ENSP00000265849.7:p.Glu473=
ENST00000642292.1:c.1013_1015delinsAGG	ENSP00000495524.1:p.Glu338=
ENST00000642456.1:c.1013_1015delinsAGG	ENSP00000493814.1:p.Glu338=
ENST00000643595.1:c.*817_*819delinsAGG	ENSP00000494497.1:n.*817_*819delinsAGG
ENST00000644110.1:c.1100_1102delinsAGG	ENSP00000496392.1:p.Glu367=
ENST00000265849.11:c.1418_1420delinsAGG	ENSP00000265849.7:p.Glu473=
ENST00000382321.5:c.804-4356_804-4354delinsAGG	ENSP00000371758.4:n.804-4356_804-4354delinsAGG
ENST00000406569.7:n.1418_1420delinsAGG
ENST00000441476.6:c.1100_1102delinsAGG	ENSP00000392843.2:p.Glu367=
ENST00000469652.1:n.63-4442_63-4440delinsAGG
NM_000535.5:c.1418_1420delinsAGG , LRG_161t1:c.1418_1420delinsAGG	NP_000526.1:p.Glu473=
NR_003085.2:n.1500_1502delinsAGG
XM_006715742.2:c.1412_1414delinsAGG	XP_006715805.1:p.Glu471=
XM_006715744.2:c.485_487delinsAGG	XP_006715807.1:p.Glu162=
XM_011515427.1:c.1463_1465delinsAGG	XP_011513729.1:p.Glu488=
XM_011515428.1:c.1307_1309delinsAGG	XP_011513730.1:p.Glu436=
XM_011515429.1:c.1100_1102delinsAGG	XP_011513731.1:p.Glu367=
XM_011515430.1:c.1100_1102delinsAGG	XP_011513732.1:p.Glu367=
NM_000535.6:c.1418_1420delinsAGG	NP_000526.2:p.Glu473=
NM_001322003.1:c.1013_1015delinsAGG	NP_001308932.1:p.Glu338=
NM_001322004.1:c.1013_1015delinsAGG	NP_001308933.1:p.Glu338=
NM_001322005.1:c.1013_1015delinsAGG	NP_001308934.1:p.Glu338=
NM_001322006.1:c.1262_1264delinsAGG	NP_001308935.1:p.Glu421=
NM_001322007.1:c.1100_1102delinsAGG	NP_001308936.1:p.Glu367=
NM_001322008.1:c.1100_1102delinsAGG	NP_001308937.1:p.Glu367=
NM_001322009.1:c.1013_1015delinsAGG	NP_001308938.1:p.Glu338=
NM_001322010.1:c.857_859delinsAGG	NP_001308939.1:p.Glu286=
NM_001322011.1:c.485_487delinsAGG	NP_001308940.1:p.Glu162=
NM_001322012.1:c.485_487delinsAGG	NP_001308941.1:p.Glu162=
NM_001322013.1:c.845_847delinsAGG	NP_001308942.1:p.Glu282=
NM_001322014.1:c.1418_1420delinsAGG	NP_001308943.1:p.Glu473=
NM_001322015.1:c.1109_1111delinsAGG	NP_001308944.1:p.Glu370=
NR_136154.1:n.1505_1507delinsAGG
XM_006715744.4:c.485_487delinsAGG	XP_006715807.1:p.Glu162=
XM_017012342.2:c.485_487delinsAGG	XP_016867831.1:p.Glu162=
XM_024446800.1:c.857_859delinsAGG	XP_024302568.1:p.Glu286=
NM_000535.7:c.1418_1420delinsAGG MANE Select	NP_000526.2:p.Glu473=
NM_001322003.2:c.1013_1015delinsAGG	NP_001308932.1:p.Glu338=
NM_001322004.2:c.1013_1015delinsAGG	NP_001308933.1:p.Glu338=
NM_001322005.2:c.1013_1015delinsAGG	NP_001308934.1:p.Glu338=
NM_001322006.2:c.1262_1264delinsAGG	NP_001308935.1:p.Glu421=
NM_001322008.2:c.1100_1102delinsAGG	NP_001308937.1:p.Glu367=
NM_001322009.2:c.1013_1015delinsAGG	NP_001308938.1:p.Glu338=
NM_001322010.2:c.857_859delinsAGG	NP_001308939.1:p.Glu286=
NM_001322011.2:c.485_487delinsAGG	NP_001308940.1:p.Glu162=
NM_001322012.2:c.485_487delinsAGG	NP_001308941.1:p.Glu162=
NM_001322013.2:c.845_847delinsAGG	NP_001308942.1:p.Glu282=
NM_001322014.2:c.1418_1420delinsAGG	NP_001308943.1:p.Glu473=
NM_001322015.2:c.1109_1111delinsAGG	NP_001308944.1:p.Glu370=
NM_001322007.2:c.1100_1102delinsAGG	NP_001308936.1:p.Glu367=