Canonical Allele Identifier: CA1685228569

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987185_5987186delinsCT , CM000669.2:g.5987185_5987186delinsCT	GRCh38
NC_000007.13:g.6026816_6026817delinsCT , CM000669.1:g.6026816_6026817delinsCT	GRCh37
NC_000007.12:g.5993342_5993343delinsCT	NCBI36
NG_008466.1:g.26921_26922delinsAG , LRG_161:g.26921_26922delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*975_*976delinsAG	ENSP00000514615.2:n.*975_*976delinsAG
ENST00000699840.2:c.1576_1577delinsAG	ENSP00000514638.2:p.Arg526=
ENST00000699930.2:c.1471_1472delinsAG	ENSP00000514695.2:p.Arg491=
ENST00000406569.8:c.1579_1580delinsAG	ENSP00000514464.1:p.Arg527=
ENST00000644110.2:c.*1173_*1174delinsAG	ENSP00000496392.2:n.*1173_*1174delinsAG
ENST00000699752.1:c.1423_1424delinsAG	ENSP00000514561.1:p.Arg475=
ENST00000699753.1:c.*1000_*1001delinsAG	ENSP00000514562.1:n.*1000_*1001delinsAG
ENST00000699754.1:c.1381_1382delinsAG	ENSP00000514563.1:p.Arg461=
ENST00000699755.1:c.*978_*979delinsAG	ENSP00000514564.1:n.*978_*979delinsAG
ENST00000699756.1:c.*1166_*1167delinsAG	ENSP00000514565.1:n.*1166_*1167delinsAG
ENST00000699757.1:c.*836_*837delinsAG	ENSP00000514566.1:n.*836_*837delinsAG
ENST00000699758.1:c.*836_*837delinsAG	ENSP00000514567.1:n.*836_*837delinsAG
ENST00000699759.1:n.2433_2434delinsAG
ENST00000699760.1:c.1261_1262delinsAG	ENSP00000514568.1:p.Arg421=
ENST00000699761.1:c.1174_1175delinsAG	ENSP00000514569.1:p.Arg392=
ENST00000699762.1:c.1006_1007delinsAG	ENSP00000514570.1:p.Arg336=
ENST00000699763.1:c.*669_*670delinsAG	ENSP00000514571.1:n.*669_*670delinsAG
ENST00000699764.1:c.1553+26_1553+27delinsAG	ENSP00000514572.1:n.1553+26_1553+27delinsAG
ENST00000699765.1:c.*675_*676delinsAG	ENSP00000514573.1:n.*675_*676delinsAG
ENST00000699766.1:c.1579_1580delinsAG	ENSP00000514574.1:p.Arg527=
ENST00000699767.1:c.1579_1580delinsAG	ENSP00000514575.1:p.Arg527=
ENST00000699768.1:c.1579_1580delinsAG	ENSP00000514576.1:p.Arg527=
ENST00000699811.1:c.1174_1175delinsAG	ENSP00000514614.1:p.Arg392=
ENST00000699813.1:n.1692_1693delinsAG
ENST00000699814.1:c.1202_1203delinsAG
ENST00000699815.1:c.*1110_*1111delinsAG	ENSP00000514616.1:n.*1110_*1111delinsAG
ENST00000699816.1:c.*469_*470delinsAG	ENSP00000514617.1:n.*469_*470delinsAG
ENST00000699817.1:c.*1173_*1174delinsAG	ENSP00000514618.1:n.*1173_*1174delinsAG
ENST00000699818.1:c.1174_1175delinsAG	ENSP00000514619.1:p.Arg392=
ENST00000699819.1:c.*736_*737delinsAG	ENSP00000514620.1:n.*736_*737delinsAG
ENST00000699820.1:c.1144+2614_1144+2615delinsAG	ENSP00000514621.1:n.1144+2614_1144+2615delinsAG
ENST00000699821.1:c.1174_1175delinsAG	ENSP00000514622.1:p.Arg392=
ENST00000699822.1:c.*1031_*1032delinsAG	ENSP00000514623.1:n.*1031_*1032delinsAG
ENST00000699823.1:c.1174_1175delinsAG	ENSP00000514624.1:p.Arg392=
ENST00000699824.1:c.*1082_*1083delinsAG	ENSP00000514625.1:n.*1082_*1083delinsAG
ENST00000699825.1:c.1018_1019delinsAG	ENSP00000514626.1:p.Arg340=
ENST00000699826.1:c.*978_*979delinsAG	ENSP00000514627.1:n.*978_*979delinsAG
ENST00000699827.1:c.1411_1412delinsAG	ENSP00000514628.1:p.Arg471=
ENST00000699828.1:c.*669_*670delinsAG	ENSP00000514629.1:n.*669_*670delinsAG
ENST00000699833.1:n.3351_3352delinsAG
ENST00000699837.1:c.1174_1175delinsAG	ENSP00000514635.1:p.Arg392=
ENST00000699838.1:c.*1479_*1480delinsAG	ENSP00000514636.1:n.*1479_*1480delinsAG
ENST00000699839.1:c.1765_1766delinsAG	ENSP00000514637.1:p.Arg589=
ENST00000699916.1:c.*836_*837delinsAG	ENSP00000514684.1:n.*836_*837delinsAG
ENST00000699917.1:c.*1028_*1029delinsAG	ENSP00000514685.1:n.*1028_*1029delinsAG
ENST00000699918.1:c.*1080_*1081delinsAG	ENSP00000514686.1:n.*1080_*1081delinsAG
ENST00000699919.1:c.*1166_*1167delinsAG	ENSP00000514687.1:n.*1166_*1167delinsAG
ENST00000699920.1:c.*1215_*1216delinsAG	ENSP00000514688.1:n.*1215_*1216delinsAG
ENST00000699928.1:c.989-4195_989-4194delinsAG	ENSP00000514693.1:n.989-4195_989-4194delinsAG
ENST00000699929.1:c.*880_*881delinsAG	ENSP00000514694.1:n.*880_*881delinsAG
ENST00000699930.1:c.1471_1472delinsAG	ENSP00000514695.1:p.Arg491=
ENST00000699931.1:n.3007_3008delinsAG
ENST00000699951.1:c.*675_*676delinsAG	ENSP00000514706.1:n.*675_*676delinsAG
ENST00000699952.1:c.803+10140_803+10141delinsAG	ENSP00000514707.1:n.803+10140_803+10141delinsAG
ENST00000699953.1:c.*686_*687delinsAG	ENSP00000514708.1:n.*686_*687delinsAG
ENST00000699954.1:c.*880_*881delinsAG	ENSP00000514709.1:n.*880_*881delinsAG
ENST00000265849.12:c.1579_1580delinsAG MANE Select	ENSP00000265849.7:p.Arg527=
ENST00000642292.1:c.1174_1175delinsAG	ENSP00000495524.1:p.Arg392=
ENST00000642456.1:c.1174_1175delinsAG	ENSP00000493814.1:p.Arg392=
ENST00000643595.1:c.*978_*979delinsAG	ENSP00000494497.1:n.*978_*979delinsAG
ENST00000644110.1:c.1261_1262delinsAG	ENSP00000496392.1:p.Arg421=
ENST00000265849.11:c.1579_1580delinsAG	ENSP00000265849.7:p.Arg527=
ENST00000382321.5:c.804-4195_804-4194delinsAG	ENSP00000371758.4:n.804-4195_804-4194delinsAG
ENST00000406569.7:n.1579_1580delinsAG
ENST00000441476.6:c.1261_1262delinsAG	ENSP00000392843.2:p.Arg421=
ENST00000469652.1:n.63-4281_63-4280delinsAG
NM_000535.5:c.1579_1580delinsAG , LRG_161t1:c.1579_1580delinsAG	NP_000526.1:p.Arg527=
NR_003085.2:n.1661_1662delinsAG
XM_006715742.2:c.1573_1574delinsAG	XP_006715805.1:p.Arg525=
XM_006715744.2:c.646_647delinsAG	XP_006715807.1:p.Arg216=
XM_011515427.1:c.1624_1625delinsAG	XP_011513729.1:p.Arg542=
XM_011515428.1:c.1468_1469delinsAG	XP_011513730.1:p.Arg490=
XM_011515429.1:c.1261_1262delinsAG	XP_011513731.1:p.Arg421=
XM_011515430.1:c.1261_1262delinsAG	XP_011513732.1:p.Arg421=
NM_000535.6:c.1579_1580delinsAG	NP_000526.2:p.Arg527=
NM_001322003.1:c.1174_1175delinsAG	NP_001308932.1:p.Arg392=
NM_001322004.1:c.1174_1175delinsAG	NP_001308933.1:p.Arg392=
NM_001322005.1:c.1174_1175delinsAG	NP_001308934.1:p.Arg392=
NM_001322006.1:c.1423_1424delinsAG	NP_001308935.1:p.Arg475=
NM_001322007.1:c.1261_1262delinsAG	NP_001308936.1:p.Arg421=
NM_001322008.1:c.1261_1262delinsAG	NP_001308937.1:p.Arg421=
NM_001322009.1:c.1174_1175delinsAG	NP_001308938.1:p.Arg392=
NM_001322010.1:c.1018_1019delinsAG	NP_001308939.1:p.Arg340=
NM_001322011.1:c.646_647delinsAG	NP_001308940.1:p.Arg216=
NM_001322012.1:c.646_647delinsAG	NP_001308941.1:p.Arg216=
NM_001322013.1:c.1006_1007delinsAG	NP_001308942.1:p.Arg336=
NM_001322014.1:c.1579_1580delinsAG	NP_001308943.1:p.Arg527=
NM_001322015.1:c.1270_1271delinsAG	NP_001308944.1:p.Arg424=
NR_136154.1:n.1666_1667delinsAG
XM_006715744.4:c.646_647delinsAG	XP_006715807.1:p.Arg216=
XM_017012342.2:c.646_647delinsAG	XP_016867831.1:p.Arg216=
XM_024446800.1:c.1018_1019delinsAG	XP_024302568.1:p.Arg340=
NM_000535.7:c.1579_1580delinsAG MANE Select	NP_000526.2:p.Arg527=
NM_001322003.2:c.1174_1175delinsAG	NP_001308932.1:p.Arg392=
NM_001322004.2:c.1174_1175delinsAG	NP_001308933.1:p.Arg392=
NM_001322005.2:c.1174_1175delinsAG	NP_001308934.1:p.Arg392=
NM_001322006.2:c.1423_1424delinsAG	NP_001308935.1:p.Arg475=
NM_001322008.2:c.1261_1262delinsAG	NP_001308937.1:p.Arg421=
NM_001322009.2:c.1174_1175delinsAG	NP_001308938.1:p.Arg392=
NM_001322010.2:c.1018_1019delinsAG	NP_001308939.1:p.Arg340=
NM_001322011.2:c.646_647delinsAG	NP_001308940.1:p.Arg216=
NM_001322012.2:c.646_647delinsAG	NP_001308941.1:p.Arg216=
NM_001322013.2:c.1006_1007delinsAG	NP_001308942.1:p.Arg336=
NM_001322014.2:c.1579_1580delinsAG	NP_001308943.1:p.Arg527=
NM_001322015.2:c.1270_1271delinsAG	NP_001308944.1:p.Arg424=
NM_001322007.2:c.1261_1262delinsAG	NP_001308936.1:p.Arg421=