Canonical Allele Identifier: CA1685225419

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986759_5986760delinsCT , CM000669.2:g.5986759_5986760delinsCT	GRCh38
NC_000007.13:g.6026390_6026391delinsCT , CM000669.1:g.6026390_6026391delinsCT	GRCh37
NC_000007.12:g.5992916_5992917delinsCT	NCBI36
NG_008466.1:g.27347_27348delinsAG , LRG_161:g.27347_27348delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1401_*1402delinsAG	ENSP00000514615.2:n.*1401_*1402delinsAG
ENST00000699840.2:c.2002_2003delinsAG	ENSP00000514638.2:p.Ser668=
ENST00000699930.2:c.1897_1898delinsAG	ENSP00000514695.2:p.Ser633=
ENST00000406569.8:c.1678+327_1678+328delinsAG	ENSP00000514464.1:n.1678+327_1678+328deli...
ENST00000644110.2:c.*1599_*1600delinsAG	ENSP00000496392.2:n.*1599_*1600delinsAG
ENST00000699752.1:c.1849_1850delinsAG	ENSP00000514561.1:p.Ser617=
ENST00000699753.1:c.*1426_*1427delinsAG	ENSP00000514562.1:n.*1426_*1427delinsAG
ENST00000699754.1:c.1807_1808delinsAG	ENSP00000514563.1:p.Ser603=
ENST00000699755.1:c.*1404_*1405delinsAG	ENSP00000514564.1:n.*1404_*1405delinsAG
ENST00000699756.1:c.*1592_*1593delinsAG	ENSP00000514565.1:n.*1592_*1593delinsAG
ENST00000699757.1:c.*1262_*1263delinsAG	ENSP00000514566.1:n.*1262_*1263delinsAG
ENST00000699758.1:c.*1262_*1263delinsAG	ENSP00000514567.1:n.*1262_*1263delinsAG
ENST00000699759.1:n.2859_2860delinsAG
ENST00000699760.1:c.1687_1688delinsAG	ENSP00000514568.1:p.Ser563=
ENST00000699761.1:c.1600_1601delinsAG	ENSP00000514569.1:p.Ser534=
ENST00000699762.1:c.1432_1433delinsAG	ENSP00000514570.1:p.Ser478=
ENST00000699763.1:c.*1095_*1096delinsAG	ENSP00000514571.1:n.*1095_*1096delinsAG
ENST00000699764.1:c.*323_*324delinsAG	ENSP00000514572.1:n.*323_*324delinsAG
ENST00000699765.1:c.*1101_*1102delinsAG	ENSP00000514573.1:n.*1101_*1102delinsAG
ENST00000699766.1:c.2005_2006delinsAG	ENSP00000514574.1:p.Ser669=
ENST00000699767.1:c.2005_2006delinsAG	ENSP00000514575.1:p.Ser669=
ENST00000699768.1:c.2005_2006delinsAG	ENSP00000514576.1:p.Ser669=
ENST00000699811.1:c.1600_1601delinsAG	ENSP00000514614.1:p.Ser534=
ENST00000699813.1:n.2118_2119delinsAG
ENST00000699814.1:c.1628_1629delinsAG
ENST00000699815.1:c.*1536_*1537delinsAG	ENSP00000514616.1:n.*1536_*1537delinsAG
ENST00000699816.1:c.*895_*896delinsAG	ENSP00000514617.1:n.*895_*896delinsAG
ENST00000699817.1:c.*1599_*1600delinsAG	ENSP00000514618.1:n.*1599_*1600delinsAG
ENST00000699818.1:c.1600_1601delinsAG	ENSP00000514619.1:p.Ser534=
ENST00000699819.1:c.*1162_*1163delinsAG	ENSP00000514620.1:n.*1162_*1163delinsAG
ENST00000699820.1:c.1144+3040_1144+3041delinsAG	ENSP00000514621.1:n.1144+3040_1144+3041de...
ENST00000699821.1:c.1600_1601delinsAG	ENSP00000514622.1:p.Ser534=
ENST00000699822.1:c.*1457_*1458delinsAG	ENSP00000514623.1:n.*1457_*1458delinsAG
ENST00000699823.1:c.1600_1601delinsAG	ENSP00000514624.1:p.Ser534=
ENST00000699824.1:c.*1508_*1509delinsAG	ENSP00000514625.1:n.*1508_*1509delinsAG
ENST00000699825.1:c.1444_1445delinsAG	ENSP00000514626.1:p.Ser482=
ENST00000699826.1:c.*1404_*1405delinsAG	ENSP00000514627.1:n.*1404_*1405delinsAG
ENST00000699827.1:c.1837_1838delinsAG	ENSP00000514628.1:p.Ser613=
ENST00000699828.1:c.*1095_*1096delinsAG	ENSP00000514629.1:n.*1095_*1096delinsAG
ENST00000699833.1:n.3777_3778delinsAG
ENST00000699837.1:c.1600_1601delinsAG	ENSP00000514635.1:p.Ser534=
ENST00000699838.1:c.*1905_*1906delinsAG	ENSP00000514636.1:n.*1905_*1906delinsAG
ENST00000699839.1:c.2191_2192delinsAG	ENSP00000514637.1:p.Ser731=
ENST00000699916.1:c.*1262_*1263delinsAG	ENSP00000514684.1:n.*1262_*1263delinsAG
ENST00000699917.1:c.*1454_*1455delinsAG	ENSP00000514685.1:n.*1454_*1455delinsAG
ENST00000699918.1:c.*1506_*1507delinsAG	ENSP00000514686.1:n.*1506_*1507delinsAG
ENST00000699919.1:c.*1592_*1593delinsAG	ENSP00000514687.1:n.*1592_*1593delinsAG
ENST00000699920.1:c.*1641_*1642delinsAG	ENSP00000514688.1:n.*1641_*1642delinsAG
ENST00000699928.1:c.989-3769_989-3768delinsAG	ENSP00000514693.1:n.989-3769_989-3768deli...
ENST00000699951.1:c.*1101_*1102delinsAG	ENSP00000514706.1:n.*1101_*1102delinsAG
ENST00000699952.1:c.803+10566_803+10567delinsAG	ENSP00000514707.1:n.803+10566_803+10567de...
ENST00000265849.12:c.2005_2006delinsAG MANE Select	ENSP00000265849.7:p.Ser669=
ENST00000642292.1:c.1600_1601delinsAG	ENSP00000495524.1:p.Ser534=
ENST00000642456.1:c.1600_1601delinsAG	ENSP00000493814.1:p.Ser534=
ENST00000643595.1:c.*1404_*1405delinsAG	ENSP00000494497.1:n.*1404_*1405delinsAG
ENST00000644110.1:c.1687_1688delinsAG	ENSP00000496392.1:p.Ser563=
ENST00000265849.11:c.2005_2006delinsAG	ENSP00000265849.7:p.Ser669=
ENST00000382321.5:c.804-3769_804-3768delinsAG	ENSP00000371758.4:n.804-3769_804-3768deli...
ENST00000406569.7:n.1678+327_1678+328delinsAG
ENST00000441476.6:c.1687_1688delinsAG	ENSP00000392843.2:p.Ser563=
ENST00000469652.1:n.63-3855_63-3854delinsAG
NM_000535.5:c.2005_2006delinsAG , LRG_161t1:c.2005_2006delinsAG	NP_000526.1:p.Ser669=
NR_003085.2:n.2087_2088delinsAG
XM_006715742.2:c.1999_2000delinsAG	XP_006715805.1:p.Ser667=
XM_006715744.2:c.1072_1073delinsAG	XP_006715807.1:p.Ser358=
XM_011515427.1:c.2050_2051delinsAG	XP_011513729.1:p.Ser684=
XM_011515428.1:c.1894_1895delinsAG	XP_011513730.1:p.Ser632=
XM_011515429.1:c.1687_1688delinsAG	XP_011513731.1:p.Ser563=
XM_011515430.1:c.1687_1688delinsAG	XP_011513732.1:p.Ser563=
NM_000535.6:c.2005_2006delinsAG	NP_000526.2:p.Ser669=
NM_001322003.1:c.1600_1601delinsAG	NP_001308932.1:p.Ser534=
NM_001322004.1:c.1600_1601delinsAG	NP_001308933.1:p.Ser534=
NM_001322005.1:c.1600_1601delinsAG	NP_001308934.1:p.Ser534=
NM_001322006.1:c.1849_1850delinsAG	NP_001308935.1:p.Ser617=
NM_001322007.1:c.1687_1688delinsAG	NP_001308936.1:p.Ser563=
NM_001322008.1:c.1687_1688delinsAG	NP_001308937.1:p.Ser563=
NM_001322009.1:c.1600_1601delinsAG	NP_001308938.1:p.Ser534=
NM_001322010.1:c.1444_1445delinsAG	NP_001308939.1:p.Ser482=
NM_001322011.1:c.1072_1073delinsAG	NP_001308940.1:p.Ser358=
NM_001322012.1:c.1072_1073delinsAG	NP_001308941.1:p.Ser358=
NM_001322013.1:c.1432_1433delinsAG	NP_001308942.1:p.Ser478=
NM_001322014.1:c.2005_2006delinsAG	NP_001308943.1:p.Ser669=
NM_001322015.1:c.1696_1697delinsAG	NP_001308944.1:p.Ser566=
NR_136154.1:n.2092_2093delinsAG
XM_006715744.4:c.1072_1073delinsAG	XP_006715807.1:p.Ser358=
XM_017012342.2:c.1072_1073delinsAG	XP_016867831.1:p.Ser358=
XM_024446800.1:c.1444_1445delinsAG	XP_024302568.1:p.Ser482=
NM_000535.7:c.2005_2006delinsAG MANE Select	NP_000526.2:p.Ser669=
NM_001322003.2:c.1600_1601delinsAG	NP_001308932.1:p.Ser534=
NM_001322004.2:c.1600_1601delinsAG	NP_001308933.1:p.Ser534=
NM_001322005.2:c.1600_1601delinsAG	NP_001308934.1:p.Ser534=
NM_001322006.2:c.1849_1850delinsAG	NP_001308935.1:p.Ser617=
NM_001322008.2:c.1687_1688delinsAG	NP_001308937.1:p.Ser563=
NM_001322009.2:c.1600_1601delinsAG	NP_001308938.1:p.Ser534=
NM_001322010.2:c.1444_1445delinsAG	NP_001308939.1:p.Ser482=
NM_001322011.2:c.1072_1073delinsAG	NP_001308940.1:p.Ser358=
NM_001322012.2:c.1072_1073delinsAG	NP_001308941.1:p.Ser358=
NM_001322013.2:c.1432_1433delinsAG	NP_001308942.1:p.Ser478=
NM_001322014.2:c.2005_2006delinsAG	NP_001308943.1:p.Ser669=
NM_001322015.2:c.1696_1697delinsAG	NP_001308944.1:p.Ser566=
NM_001322007.2:c.1687_1688delinsAG	NP_001308936.1:p.Ser563=