Canonical Allele Identifier: CA1685226642

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986926_5986929delinsCTTA , CM000669.2:g.5986926_5986929delinsCTTA	GRCh38
NC_000007.13:g.6026557_6026560delinsCTTA , CM000669.1:g.6026557_6026560delinsCTTA	GRCh37
NC_000007.12:g.5993083_5993086delinsCTTA	NCBI36
NG_008466.1:g.27178_27181delinsTAAG , LRG_161:g.27178_27181delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1232_*1235delinsTAAG	ENSP00000514615.2:n.*1232_*1235delinsTAAG
ENST00000699840.2:c.1833_1836delinsTAAG	ENSP00000514638.2:p.Asn611=
ENST00000699930.2:c.1728_1731delinsTAAG	ENSP00000514695.2:p.Asn576=
ENST00000406569.8:c.1678+158_1678+161delinsTAAG	ENSP00000514464.1:n.1678+158_1678+161delinsTAAG
ENST00000644110.2:c.*1430_*1433delinsTAAG	ENSP00000496392.2:n.*1430_*1433delinsTAAG
ENST00000699752.1:c.1680_1683delinsTAAG	ENSP00000514561.1:p.Asn560=
ENST00000699753.1:c.*1257_*1260delinsTAAG	ENSP00000514562.1:n.*1257_*1260delinsTAAG
ENST00000699754.1:c.1638_1641delinsTAAG	ENSP00000514563.1:p.Asn546=
ENST00000699755.1:c.*1235_*1238delinsTAAG	ENSP00000514564.1:n.*1235_*1238delinsTAAG
ENST00000699756.1:c.*1423_*1426delinsTAAG	ENSP00000514565.1:n.*1423_*1426delinsTAAG
ENST00000699757.1:c.*1093_*1096delinsTAAG	ENSP00000514566.1:n.*1093_*1096delinsTAAG
ENST00000699758.1:c.*1093_*1096delinsTAAG	ENSP00000514567.1:n.*1093_*1096delinsTAAG
ENST00000699759.1:n.2690_2693delinsTAAG
ENST00000699760.1:c.1518_1521delinsTAAG	ENSP00000514568.1:p.Asn506=
ENST00000699761.1:c.1431_1434delinsTAAG	ENSP00000514569.1:p.Asn477=
ENST00000699762.1:c.1263_1266delinsTAAG	ENSP00000514570.1:p.Asn421=
ENST00000699763.1:c.*926_*929delinsTAAG	ENSP00000514571.1:n.*926_*929delinsTAAG
ENST00000699764.1:c.*154_*157delinsTAAG	ENSP00000514572.1:n.*154_*157delinsTAAG
ENST00000699765.1:c.*932_*935delinsTAAG	ENSP00000514573.1:n.*932_*935delinsTAAG
ENST00000699766.1:c.1836_1839delinsTAAG	ENSP00000514574.1:p.Asn612=
ENST00000699767.1:c.1836_1839delinsTAAG	ENSP00000514575.1:p.Asn612=
ENST00000699768.1:c.1836_1839delinsTAAG	ENSP00000514576.1:p.Asn612=
ENST00000699811.1:c.1431_1434delinsTAAG	ENSP00000514614.1:p.Asn477=
ENST00000699813.1:n.1949_1952delinsTAAG
ENST00000699814.1:c.1459_1462delinsTAAG
ENST00000699815.1:c.*1367_*1370delinsTAAG	ENSP00000514616.1:n.*1367_*1370delinsTAAG
ENST00000699816.1:c.*726_*729delinsTAAG	ENSP00000514617.1:n.*726_*729delinsTAAG
ENST00000699817.1:c.*1430_*1433delinsTAAG	ENSP00000514618.1:n.*1430_*1433delinsTAAG
ENST00000699818.1:c.1431_1434delinsTAAG	ENSP00000514619.1:p.Asn477=
ENST00000699819.1:c.*993_*996delinsTAAG	ENSP00000514620.1:n.*993_*996delinsTAAG
ENST00000699820.1:c.1144+2871_1144+2874delinsTAAG	ENSP00000514621.1:n.1144+2871_1144+2874delinsTAAG
ENST00000699821.1:c.1431_1434delinsTAAG	ENSP00000514622.1:p.Asn477=
ENST00000699822.1:c.*1288_*1291delinsTAAG	ENSP00000514623.1:n.*1288_*1291delinsTAAG
ENST00000699823.1:c.1431_1434delinsTAAG	ENSP00000514624.1:p.Asn477=
ENST00000699824.1:c.*1339_*1342delinsTAAG	ENSP00000514625.1:n.*1339_*1342delinsTAAG
ENST00000699825.1:c.1275_1278delinsTAAG	ENSP00000514626.1:p.Asn425=
ENST00000699826.1:c.*1235_*1238delinsTAAG	ENSP00000514627.1:n.*1235_*1238delinsTAAG
ENST00000699827.1:c.1668_1671delinsTAAG	ENSP00000514628.1:p.Asn556=
ENST00000699828.1:c.*926_*929delinsTAAG	ENSP00000514629.1:n.*926_*929delinsTAAG
ENST00000699833.1:n.3608_3611delinsTAAG
ENST00000699837.1:c.1431_1434delinsTAAG	ENSP00000514635.1:p.Asn477=
ENST00000699838.1:c.*1736_*1739delinsTAAG	ENSP00000514636.1:n.*1736_*1739delinsTAAG
ENST00000699839.1:c.2022_2025delinsTAAG	ENSP00000514637.1:p.Asn674=
ENST00000699916.1:c.*1093_*1096delinsTAAG	ENSP00000514684.1:n.*1093_*1096delinsTAAG
ENST00000699917.1:c.*1285_*1288delinsTAAG	ENSP00000514685.1:n.*1285_*1288delinsTAAG
ENST00000699918.1:c.*1337_*1340delinsTAAG	ENSP00000514686.1:n.*1337_*1340delinsTAAG
ENST00000699919.1:c.*1423_*1426delinsTAAG	ENSP00000514687.1:n.*1423_*1426delinsTAAG
ENST00000699920.1:c.*1472_*1475delinsTAAG	ENSP00000514688.1:n.*1472_*1475delinsTAAG
ENST00000699928.1:c.989-3938_989-3935delinsTAAG	ENSP00000514693.1:n.989-3938_989-3935delinsTAAG
ENST00000699951.1:c.*932_*935delinsTAAG	ENSP00000514706.1:n.*932_*935delinsTAAG
ENST00000699952.1:c.803+10397_803+10400delinsTAAG	ENSP00000514707.1:n.803+10397_803+10400delinsTAAG
ENST00000265849.12:c.1836_1839delinsTAAG MANE Select	ENSP00000265849.7:p.Asn612=
ENST00000642292.1:c.1431_1434delinsTAAG	ENSP00000495524.1:p.Asn477=
ENST00000642456.1:c.1431_1434delinsTAAG	ENSP00000493814.1:p.Asn477=
ENST00000643595.1:c.*1235_*1238delinsTAAG	ENSP00000494497.1:n.*1235_*1238delinsTAAG
ENST00000644110.1:c.1518_1521delinsTAAG	ENSP00000496392.1:p.Asn506=
ENST00000265849.11:c.1836_1839delinsTAAG	ENSP00000265849.7:p.Asn612=
ENST00000382321.5:c.804-3938_804-3935delinsTAAG	ENSP00000371758.4:n.804-3938_804-3935delinsTAAG
ENST00000406569.7:n.1678+158_1678+161delinsTAAG
ENST00000441476.6:c.1518_1521delinsTAAG	ENSP00000392843.2:p.Asn506=
ENST00000469652.1:n.63-4024_63-4021delinsTAAG
NM_000535.5:c.1836_1839delinsTAAG , LRG_161t1:c.1836_1839delinsTAAG	NP_000526.1:p.Asn612=
NR_003085.2:n.1918_1921delinsTAAG
XM_006715742.2:c.1830_1833delinsTAAG	XP_006715805.1:p.Asn610=
XM_006715744.2:c.903_906delinsTAAG	XP_006715807.1:p.Asn301=
XM_011515427.1:c.1881_1884delinsTAAG	XP_011513729.1:p.Asn627=
XM_011515428.1:c.1725_1728delinsTAAG	XP_011513730.1:p.Asn575=
XM_011515429.1:c.1518_1521delinsTAAG	XP_011513731.1:p.Asn506=
XM_011515430.1:c.1518_1521delinsTAAG	XP_011513732.1:p.Asn506=
NM_000535.6:c.1836_1839delinsTAAG	NP_000526.2:p.Asn612=
NM_001322003.1:c.1431_1434delinsTAAG	NP_001308932.1:p.Asn477=
NM_001322004.1:c.1431_1434delinsTAAG	NP_001308933.1:p.Asn477=
NM_001322005.1:c.1431_1434delinsTAAG	NP_001308934.1:p.Asn477=
NM_001322006.1:c.1680_1683delinsTAAG	NP_001308935.1:p.Asn560=
NM_001322007.1:c.1518_1521delinsTAAG	NP_001308936.1:p.Asn506=
NM_001322008.1:c.1518_1521delinsTAAG	NP_001308937.1:p.Asn506=
NM_001322009.1:c.1431_1434delinsTAAG	NP_001308938.1:p.Asn477=
NM_001322010.1:c.1275_1278delinsTAAG	NP_001308939.1:p.Asn425=
NM_001322011.1:c.903_906delinsTAAG	NP_001308940.1:p.Asn301=
NM_001322012.1:c.903_906delinsTAAG	NP_001308941.1:p.Asn301=
NM_001322013.1:c.1263_1266delinsTAAG	NP_001308942.1:p.Asn421=
NM_001322014.1:c.1836_1839delinsTAAG	NP_001308943.1:p.Asn612=
NM_001322015.1:c.1527_1530delinsTAAG	NP_001308944.1:p.Asn509=
NR_136154.1:n.1923_1926delinsTAAG
XM_006715744.4:c.903_906delinsTAAG	XP_006715807.1:p.Asn301=
XM_017012342.2:c.903_906delinsTAAG	XP_016867831.1:p.Asn301=
XM_024446800.1:c.1275_1278delinsTAAG	XP_024302568.1:p.Asn425=
NM_000535.7:c.1836_1839delinsTAAG MANE Select	NP_000526.2:p.Asn612=
NM_001322003.2:c.1431_1434delinsTAAG	NP_001308932.1:p.Asn477=
NM_001322004.2:c.1431_1434delinsTAAG	NP_001308933.1:p.Asn477=
NM_001322005.2:c.1431_1434delinsTAAG	NP_001308934.1:p.Asn477=
NM_001322006.2:c.1680_1683delinsTAAG	NP_001308935.1:p.Asn560=
NM_001322008.2:c.1518_1521delinsTAAG	NP_001308937.1:p.Asn506=
NM_001322009.2:c.1431_1434delinsTAAG	NP_001308938.1:p.Asn477=
NM_001322010.2:c.1275_1278delinsTAAG	NP_001308939.1:p.Asn425=
NM_001322011.2:c.903_906delinsTAAG	NP_001308940.1:p.Asn301=
NM_001322012.2:c.903_906delinsTAAG	NP_001308941.1:p.Asn301=
NM_001322013.2:c.1263_1266delinsTAAG	NP_001308942.1:p.Asn421=
NM_001322014.2:c.1836_1839delinsTAAG	NP_001308943.1:p.Asn612=
NM_001322015.2:c.1527_1530delinsTAAG	NP_001308944.1:p.Asn509=
NM_001322007.2:c.1518_1521delinsTAAG	NP_001308936.1:p.Asn506=