Canonical Allele Identifier: CA1685217300

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5982874_5982875delinsGT , CM000669.2:g.5982874_5982875delinsGT	GRCh38
NC_000007.13:g.6022505_6022506delinsGT , CM000669.1:g.6022505_6022506delinsGT	GRCh37
NC_000007.12:g.5989031_5989032delinsGT	NCBI36
NG_008466.1:g.31232_31233delinsAC , LRG_161:g.31232_31233delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1519_*1520delinsAC	ENSP00000514615.2:n.*1519_*1520delinsAC
ENST00000699840.2:c.2120_2121delinsAC	ENSP00000514638.2:p.Asn707=
ENST00000699930.2:c.2015_2016delinsAC	ENSP00000514695.2:p.Asn672=
ENST00000406569.8:c.1678+4212_1678+4213delinsAC	ENSP00000514464.1:n.1678+4212_1678+4213delinsAC
ENST00000644110.2:c.*1717_*1718delinsAC	ENSP00000496392.2:n.*1717_*1718delinsAC
ENST00000699752.1:c.1967_1968delinsAC	ENSP00000514561.1:p.Asn656=
ENST00000699753.1:c.*1544_*1545delinsAC	ENSP00000514562.1:n.*1544_*1545delinsAC
ENST00000699754.1:c.1925_1926delinsAC	ENSP00000514563.1:p.Asn642=
ENST00000699755.1:c.*1522_*1523delinsAC	ENSP00000514564.1:n.*1522_*1523delinsAC
ENST00000699756.1:c.*1710_*1711delinsAC	ENSP00000514565.1:n.*1710_*1711delinsAC
ENST00000699757.1:c.*1380_*1381delinsAC	ENSP00000514566.1:n.*1380_*1381delinsAC
ENST00000699758.1:c.*1380_*1381delinsAC	ENSP00000514567.1:n.*1380_*1381delinsAC
ENST00000699759.1:n.2977_2978delinsAC
ENST00000699760.1:c.1805_1806delinsAC	ENSP00000514568.1:p.Asn602=
ENST00000699761.1:c.1718_1719delinsAC	ENSP00000514569.1:p.Asn573=
ENST00000699762.1:c.1550_1551delinsAC	ENSP00000514570.1:p.Asn517=
ENST00000699763.1:c.*1213_*1214delinsAC	ENSP00000514571.1:n.*1213_*1214delinsAC
ENST00000699764.1:c.*441_*442delinsAC	ENSP00000514572.1:n.*441_*442delinsAC
ENST00000699765.1:c.*1219_*1220delinsAC	ENSP00000514573.1:n.*1219_*1220delinsAC
ENST00000699766.1:c.2123_2124delinsAC	ENSP00000514574.1:p.Asn708=
ENST00000699767.1:c.2123_2124delinsAC	ENSP00000514575.1:p.Asn708=
ENST00000699768.1:c.2123_2124delinsAC	ENSP00000514576.1:p.Asn708=
ENST00000699811.1:c.1718_1719delinsAC	ENSP00000514614.1:p.Asn573=
ENST00000699813.1:n.2236_2237delinsAC
ENST00000699814.1:c.1746_1747delinsAC
ENST00000699815.1:c.*1654_*1655delinsAC	ENSP00000514616.1:n.*1654_*1655delinsAC
ENST00000699816.1:c.*1013_*1014delinsAC	ENSP00000514617.1:n.*1013_*1014delinsAC
ENST00000699817.1:c.*1717_*1718delinsAC	ENSP00000514618.1:n.*1717_*1718delinsAC
ENST00000699818.1:c.1718_1719delinsAC	ENSP00000514619.1:p.Asn573=
ENST00000699819.1:c.*1280_*1281delinsAC	ENSP00000514620.1:n.*1280_*1281delinsAC
ENST00000699820.1:c.*61_*62delinsAC	ENSP00000514621.1:n.*61_*62delinsAC
ENST00000699821.1:c.1718_1719delinsAC	ENSP00000514622.1:p.Asn573=
ENST00000699822.1:c.*1575_*1576delinsAC	ENSP00000514623.1:n.*1575_*1576delinsAC
ENST00000699823.1:c.1718_1719delinsAC	ENSP00000514624.1:p.Asn573=
ENST00000699824.1:c.*1626_*1627delinsAC	ENSP00000514625.1:n.*1626_*1627delinsAC
ENST00000699825.1:c.1562_1563delinsAC	ENSP00000514626.1:p.Asn521=
ENST00000699826.1:c.*1522_*1523delinsAC	ENSP00000514627.1:n.*1522_*1523delinsAC
ENST00000699827.1:c.1955_1956delinsAC	ENSP00000514628.1:p.Asn652=
ENST00000699828.1:c.*1213_*1214delinsAC	ENSP00000514629.1:n.*1213_*1214delinsAC
ENST00000699833.1:n.3895_3896delinsAC
ENST00000699837.1:c.1718_1719delinsAC	ENSP00000514635.1:p.Asn573=
ENST00000699838.1:c.*2023_*2024delinsAC	ENSP00000514636.1:n.*2023_*2024delinsAC
ENST00000699839.1:c.2309_2310delinsAC	ENSP00000514637.1:p.Asn770=
ENST00000699916.1:c.*1380_*1381delinsAC	ENSP00000514684.1:n.*1380_*1381delinsAC
ENST00000699917.1:c.*1572_*1573delinsAC	ENSP00000514685.1:n.*1572_*1573delinsAC
ENST00000699918.1:c.*1624_*1625delinsAC	ENSP00000514686.1:n.*1624_*1625delinsAC
ENST00000699919.1:c.*1710_*1711delinsAC	ENSP00000514687.1:n.*1710_*1711delinsAC
ENST00000699920.1:c.*1759_*1760delinsAC	ENSP00000514688.1:n.*1759_*1760delinsAC
ENST00000699928.1:c.*61_*62delinsAC	ENSP00000514693.1:n.*61_*62delinsAC
ENST00000699951.1:c.*1219_*1220delinsAC	ENSP00000514706.1:n.*1219_*1220delinsAC
ENST00000699952.1:c.804-9333_804-9332delinsAC	ENSP00000514707.1:n.804-9333_804-9332delinsAC
ENST00000265849.12:c.2123_2124delinsAC MANE Select	ENSP00000265849.7:p.Asn708=
ENST00000642292.1:c.1718_1719delinsAC	ENSP00000495524.1:p.Asn573=
ENST00000642456.1:c.1718_1719delinsAC	ENSP00000493814.1:p.Asn573=
ENST00000643595.1:c.*1522_*1523delinsAC	ENSP00000494497.1:n.*1522_*1523delinsAC
ENST00000644110.1:c.1805_1806delinsAC	ENSP00000496392.1:p.Asn602=
ENST00000265849.11:c.2123_2124delinsAC	ENSP00000265849.7:p.Asn708=
ENST00000382321.5:c.920_921delinsAC	ENSP00000371758.4:p.Asn307=
ENST00000406569.7:n.1678+4212_1678+4213delinsAC
ENST00000441476.6:c.1805_1806delinsAC	ENSP00000392843.2:p.Asn602=
NM_000535.5:c.2123_2124delinsAC , LRG_161t1:c.2123_2124delinsAC	NP_000526.1:p.Asn708=
NR_003085.2:n.2205_2206delinsAC
XM_006715742.2:c.2117_2118delinsAC	XP_006715805.1:p.Asn706=
XM_006715744.2:c.1190_1191delinsAC	XP_006715807.1:p.Asn397=
XM_011515427.1:c.2168_2169delinsAC	XP_011513729.1:p.Asn723=
XM_011515428.1:c.2012_2013delinsAC	XP_011513730.1:p.Asn671=
XM_011515429.1:c.1805_1806delinsAC	XP_011513731.1:p.Asn602=
XM_011515430.1:c.1805_1806delinsAC	XP_011513732.1:p.Asn602=
NM_000535.6:c.2123_2124delinsAC	NP_000526.2:p.Asn708=
NM_001322003.1:c.1718_1719delinsAC	NP_001308932.1:p.Asn573=
NM_001322004.1:c.1718_1719delinsAC	NP_001308933.1:p.Asn573=
NM_001322005.1:c.1718_1719delinsAC	NP_001308934.1:p.Asn573=
NM_001322006.1:c.1967_1968delinsAC	NP_001308935.1:p.Asn656=
NM_001322007.1:c.1805_1806delinsAC	NP_001308936.1:p.Asn602=
NM_001322008.1:c.1805_1806delinsAC	NP_001308937.1:p.Asn602=
NM_001322009.1:c.1718_1719delinsAC	NP_001308938.1:p.Asn573=
NM_001322010.1:c.1562_1563delinsAC	NP_001308939.1:p.Asn521=
NM_001322011.1:c.1190_1191delinsAC	NP_001308940.1:p.Asn397=
NM_001322012.1:c.1190_1191delinsAC	NP_001308941.1:p.Asn397=
NM_001322013.1:c.1550_1551delinsAC	NP_001308942.1:p.Asn517=
NM_001322014.1:c.2123_2124delinsAC	NP_001308943.1:p.Asn708=
NM_001322015.1:c.1814_1815delinsAC	NP_001308944.1:p.Asn605=
NR_136154.1:n.2210_2211delinsAC
XM_006715744.4:c.1190_1191delinsAC	XP_006715807.1:p.Asn397=
XM_017012342.2:c.1190_1191delinsAC	XP_016867831.1:p.Asn397=
XM_024446800.1:c.1562_1563delinsAC	XP_024302568.1:p.Asn521=
NM_000535.7:c.2123_2124delinsAC MANE Select	NP_000526.2:p.Asn708=
NM_001322003.2:c.1718_1719delinsAC	NP_001308932.1:p.Asn573=
NM_001322004.2:c.1718_1719delinsAC	NP_001308933.1:p.Asn573=
NM_001322005.2:c.1718_1719delinsAC	NP_001308934.1:p.Asn573=
NM_001322006.2:c.1967_1968delinsAC	NP_001308935.1:p.Asn656=
NM_001322008.2:c.1805_1806delinsAC	NP_001308937.1:p.Asn602=
NM_001322009.2:c.1718_1719delinsAC	NP_001308938.1:p.Asn573=
NM_001322010.2:c.1562_1563delinsAC	NP_001308939.1:p.Asn521=
NM_001322011.2:c.1190_1191delinsAC	NP_001308940.1:p.Asn397=
NM_001322012.2:c.1190_1191delinsAC	NP_001308941.1:p.Asn397=
NM_001322013.2:c.1550_1551delinsAC	NP_001308942.1:p.Asn517=
NM_001322014.2:c.2123_2124delinsAC	NP_001308943.1:p.Asn708=
NM_001322015.2:c.1814_1815delinsAC	NP_001308944.1:p.Asn605=
NM_001322007.2:c.1805_1806delinsAC	NP_001308936.1:p.Asn602=