Canonical Allele Identifier: CA1685218332
Gene: PMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5983135_5983137delinsCAG , CM000669.2:g.5983135_5983137delinsCAG GRCh38
NC_000007.13:g.6022766_6022768delinsCAG , CM000669.1:g.6022766_6022768delinsCAG GRCh37
NC_000007.12:g.5989292_5989294delinsCAG NCBI36
NG_008466.1:g.30970_30972delinsCTG , LRG_161:g.30970_30972delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1403-146_*1403-144delinsCTG ENSP00000514615.2:n.*1403-146_*1403-144delinsCTG
ENST00000699840.2:c.2004-146_2004-144delinsCTG ENSP00000514638.2:n.2004-146_2004-144delinsCTG
ENST00000699930.2:c.1899-146_1899-144delinsCTG ENSP00000514695.2:n.1899-146_1899-144delinsCTG
ENST00000406569.8:c.1678+3950_1678+3952delinsCTG ENSP00000514464.1:n.1678+3950_1678+3952delinsCTG
ENST00000644110.2:c.*1601-146_*1601-144delinsCTG ENSP00000496392.2:n.*1601-146_*1601-144delinsCTG
ENST00000699752.1:c.1851-146_1851-144delinsCTG ENSP00000514561.1:n.1851-146_1851-144delinsCTG
ENST00000699753.1:c.*1428-146_*1428-144delinsCTG ENSP00000514562.1:n.*1428-146_*1428-144delinsCTG
ENST00000699754.1:c.1809-146_1809-144delinsCTG ENSP00000514563.1:n.1809-146_1809-144delinsCTG
ENST00000699755.1:c.*1406-146_*1406-144delinsCTG ENSP00000514564.1:n.*1406-146_*1406-144delinsCTG
ENST00000699756.1:c.*1594-146_*1594-144delinsCTG ENSP00000514565.1:n.*1594-146_*1594-144delinsCTG
ENST00000699757.1:c.*1264-146_*1264-144delinsCTG ENSP00000514566.1:n.*1264-146_*1264-144delinsCTG
ENST00000699758.1:c.*1264-146_*1264-144delinsCTG ENSP00000514567.1:n.*1264-146_*1264-144delinsCTG
ENST00000699759.1:n.2861-146_2861-144delinsCTG
ENST00000699760.1:c.1689-146_1689-144delinsCTG ENSP00000514568.1:n.1689-146_1689-144delinsCTG
ENST00000699761.1:c.1602-146_1602-144delinsCTG ENSP00000514569.1:n.1602-146_1602-144delinsCTG
ENST00000699762.1:c.1434-146_1434-144delinsCTG ENSP00000514570.1:n.1434-146_1434-144delinsCTG
ENST00000699763.1:c.*1097-146_*1097-144delinsCTG ENSP00000514571.1:n.*1097-146_*1097-144delinsCTG
ENST00000699764.1:c.*325-146_*325-144delinsCTG ENSP00000514572.1:n.*325-146_*325-144delinsCTG
ENST00000699765.1:c.*1103-146_*1103-144delinsCTG ENSP00000514573.1:n.*1103-146_*1103-144delinsCTG
ENST00000699766.1:c.2007-146_2007-144delinsCTG ENSP00000514574.1:n.2007-146_2007-144delinsCTG
ENST00000699767.1:c.2007-146_2007-144delinsCTG ENSP00000514575.1:n.2007-146_2007-144delinsCTG
ENST00000699768.1:c.2007-146_2007-144delinsCTG ENSP00000514576.1:n.2007-146_2007-144delinsCTG
ENST00000699811.1:c.1602-146_1602-144delinsCTG ENSP00000514614.1:n.1602-146_1602-144delinsCTG
ENST00000699813.1:n.2120-146_2120-144delinsCTG
ENST00000699814.1:c.1630-146_1630-144delinsCTG
ENST00000699815.1:c.*1538-146_*1538-144delinsCTG ENSP00000514616.1:n.*1538-146_*1538-144delinsCTG
ENST00000699816.1:c.*897-146_*897-144delinsCTG ENSP00000514617.1:n.*897-146_*897-144delinsCTG
ENST00000699817.1:c.*1601-146_*1601-144delinsCTG ENSP00000514618.1:n.*1601-146_*1601-144delinsCTG
ENST00000699818.1:c.1602-146_1602-144delinsCTG ENSP00000514619.1:n.1602-146_1602-144delinsCTG
ENST00000699819.1:c.*1164-146_*1164-144delinsCTG ENSP00000514620.1:n.*1164-146_*1164-144delinsCTG
ENST00000699820.1:c.1145-146_1145-144delinsCTG ENSP00000514621.1:n.1145-146_1145-144delinsCTG
ENST00000699821.1:c.1602-146_1602-144delinsCTG ENSP00000514622.1:n.1602-146_1602-144delinsCTG
ENST00000699822.1:c.*1459-146_*1459-144delinsCTG ENSP00000514623.1:n.*1459-146_*1459-144delinsCTG
ENST00000699823.1:c.1602-146_1602-144delinsCTG ENSP00000514624.1:n.1602-146_1602-144delinsCTG
ENST00000699824.1:c.*1510-146_*1510-144delinsCTG ENSP00000514625.1:n.*1510-146_*1510-144delinsCTG
ENST00000699825.1:c.1446-146_1446-144delinsCTG ENSP00000514626.1:n.1446-146_1446-144delinsCTG
ENST00000699826.1:c.*1406-146_*1406-144delinsCTG ENSP00000514627.1:n.*1406-146_*1406-144delinsCTG
ENST00000699827.1:c.1839-146_1839-144delinsCTG ENSP00000514628.1:n.1839-146_1839-144delinsCTG
ENST00000699828.1:c.*1097-146_*1097-144delinsCTG ENSP00000514629.1:n.*1097-146_*1097-144delinsCTG
ENST00000699833.1:n.3779-146_3779-144delinsCTG
ENST00000699837.1:c.1602-146_1602-144delinsCTG ENSP00000514635.1:n.1602-146_1602-144delinsCTG
ENST00000699838.1:c.*1907-146_*1907-144delinsCTG ENSP00000514636.1:n.*1907-146_*1907-144delinsCTG
ENST00000699839.1:c.2193-146_2193-144delinsCTG ENSP00000514637.1:n.2193-146_2193-144delinsCTG
ENST00000699916.1:c.*1264-146_*1264-144delinsCTG ENSP00000514684.1:n.*1264-146_*1264-144delinsCTG
ENST00000699917.1:c.*1456-146_*1456-144delinsCTG ENSP00000514685.1:n.*1456-146_*1456-144delinsCTG
ENST00000699918.1:c.*1508-146_*1508-144delinsCTG ENSP00000514686.1:n.*1508-146_*1508-144delinsCTG
ENST00000699919.1:c.*1594-146_*1594-144delinsCTG ENSP00000514687.1:n.*1594-146_*1594-144delinsCTG
ENST00000699920.1:c.*1643-146_*1643-144delinsCTG ENSP00000514688.1:n.*1643-146_*1643-144delinsCTG
ENST00000699928.1:c.989-146_989-144delinsCTG ENSP00000514693.1:n.989-146_989-144delinsCTG
ENST00000699951.1:c.*1103-146_*1103-144delinsCTG ENSP00000514706.1:n.*1103-146_*1103-144delinsCTG
ENST00000699952.1:c.804-9595_804-9593delinsCTG ENSP00000514707.1:n.804-9595_804-9593delinsCTG
ENST00000265849.12:c.2007-146_2007-144delinsCTG MANE Select ENSP00000265849.7:n.2007-146_2007-144delinsCTG
ENST00000642292.1:c.1602-146_1602-144delinsCTG ENSP00000495524.1:n.1602-146_1602-144delinsCTG
ENST00000642456.1:c.1602-146_1602-144delinsCTG ENSP00000493814.1:n.1602-146_1602-144delinsCTG
ENST00000643595.1:c.*1406-146_*1406-144delinsCTG ENSP00000494497.1:n.*1406-146_*1406-144delinsCTG
ENST00000644110.1:c.1689-146_1689-144delinsCTG ENSP00000496392.1:n.1689-146_1689-144delinsCTG
ENST00000265849.11:c.2007-146_2007-144delinsCTG ENSP00000265849.7:n.2007-146_2007-144delinsCTG
ENST00000382321.5:c.804-146_804-144delinsCTG ENSP00000371758.4:n.804-146_804-144delinsCTG
ENST00000406569.7:n.1678+3950_1678+3952delinsCTG
ENST00000441476.6:c.1689-146_1689-144delinsCTG ENSP00000392843.2:n.1689-146_1689-144delinsCTG
ENST00000469652.1:n.63-232_63-230delinsCTG
NM_000535.5:c.2007-146_2007-144delinsCTG , LRG_161t1:c.2007-146_2007-144delinsCTG NP_000526.1:n.2007-146_2007-144delinsCTG
NR_003085.2:n.2089-146_2089-144delinsCTG
XM_006715742.2:c.2001-146_2001-144delinsCTG XP_006715805.1:n.2001-146_2001-144delinsCTG
XM_006715744.2:c.1074-146_1074-144delinsCTG XP_006715807.1:n.1074-146_1074-144delinsCTG
XM_011515427.1:c.2052-146_2052-144delinsCTG XP_011513729.1:n.2052-146_2052-144delinsCTG
XM_011515428.1:c.1896-146_1896-144delinsCTG XP_011513730.1:n.1896-146_1896-144delinsCTG
XM_011515429.1:c.1689-146_1689-144delinsCTG XP_011513731.1:n.1689-146_1689-144delinsCTG
XM_011515430.1:c.1689-146_1689-144delinsCTG XP_011513732.1:n.1689-146_1689-144delinsCTG
NM_000535.6:c.2007-146_2007-144delinsCTG NP_000526.2:n.2007-146_2007-144delinsCTG
NM_001322003.1:c.1602-146_1602-144delinsCTG NP_001308932.1:n.1602-146_1602-144delinsCTG
NM_001322004.1:c.1602-146_1602-144delinsCTG NP_001308933.1:n.1602-146_1602-144delinsCTG
NM_001322005.1:c.1602-146_1602-144delinsCTG NP_001308934.1:n.1602-146_1602-144delinsCTG
NM_001322006.1:c.1851-146_1851-144delinsCTG NP_001308935.1:n.1851-146_1851-144delinsCTG
NM_001322007.1:c.1689-146_1689-144delinsCTG NP_001308936.1:n.1689-146_1689-144delinsCTG
NM_001322008.1:c.1689-146_1689-144delinsCTG NP_001308937.1:n.1689-146_1689-144delinsCTG
NM_001322009.1:c.1602-146_1602-144delinsCTG NP_001308938.1:n.1602-146_1602-144delinsCTG
NM_001322010.1:c.1446-146_1446-144delinsCTG NP_001308939.1:n.1446-146_1446-144delinsCTG
NM_001322011.1:c.1074-146_1074-144delinsCTG NP_001308940.1:n.1074-146_1074-144delinsCTG
NM_001322012.1:c.1074-146_1074-144delinsCTG NP_001308941.1:n.1074-146_1074-144delinsCTG
NM_001322013.1:c.1434-146_1434-144delinsCTG NP_001308942.1:n.1434-146_1434-144delinsCTG
NM_001322014.1:c.2007-146_2007-144delinsCTG NP_001308943.1:n.2007-146_2007-144delinsCTG
NM_001322015.1:c.1698-146_1698-144delinsCTG NP_001308944.1:n.1698-146_1698-144delinsCTG
NR_136154.1:n.2094-146_2094-144delinsCTG
XM_006715744.4:c.1074-146_1074-144delinsCTG XP_006715807.1:n.1074-146_1074-144delinsCTG
XM_017012342.2:c.1074-146_1074-144delinsCTG XP_016867831.1:n.1074-146_1074-144delinsCTG
XM_024446800.1:c.1446-146_1446-144delinsCTG XP_024302568.1:n.1446-146_1446-144delinsCTG
NM_000535.7:c.2007-146_2007-144delinsCTG MANE Select NP_000526.2:n.2007-146_2007-144delinsCTG
NM_001322003.2:c.1602-146_1602-144delinsCTG NP_001308932.1:n.1602-146_1602-144delinsCTG
NM_001322004.2:c.1602-146_1602-144delinsCTG NP_001308933.1:n.1602-146_1602-144delinsCTG
NM_001322005.2:c.1602-146_1602-144delinsCTG NP_001308934.1:n.1602-146_1602-144delinsCTG
NM_001322006.2:c.1851-146_1851-144delinsCTG NP_001308935.1:n.1851-146_1851-144delinsCTG
NM_001322008.2:c.1689-146_1689-144delinsCTG NP_001308937.1:n.1689-146_1689-144delinsCTG
NM_001322009.2:c.1602-146_1602-144delinsCTG NP_001308938.1:n.1602-146_1602-144delinsCTG
NM_001322010.2:c.1446-146_1446-144delinsCTG NP_001308939.1:n.1446-146_1446-144delinsCTG
NM_001322011.2:c.1074-146_1074-144delinsCTG NP_001308940.1:n.1074-146_1074-144delinsCTG
NM_001322012.2:c.1074-146_1074-144delinsCTG NP_001308941.1:n.1074-146_1074-144delinsCTG
NM_001322013.2:c.1434-146_1434-144delinsCTG NP_001308942.1:n.1434-146_1434-144delinsCTG
NM_001322014.2:c.2007-146_2007-144delinsCTG NP_001308943.1:n.2007-146_2007-144delinsCTG
NM_001322015.2:c.1698-146_1698-144delinsCTG NP_001308944.1:n.1698-146_1698-144delinsCTG
NM_001322007.2:c.1689-146_1689-144delinsCTG NP_001308936.1:n.1689-146_1689-144delinsCTG