Canonical Allele Identifier: CA1685241695

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5992027_5992039delinsTGTGGTAGACCTC , CM000669.2:g.5992027_5992039delinsTGTGGTAGACCTC	GRCh38
NC_000007.13:g.6031658_6031670delinsTGTGGTAGACCTC , CM000669.1:g.6031658_6031670delinsTGTGGTAGACCTC	GRCh37
NC_000007.12:g.5998184_5998196delinsTGTGGTAGACCTC	NCBI36
NG_008466.1:g.22068_22080delinsGAGGTCTACCACA , LRG_161:g.22068_22080delinsGAGGTCTACCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*318_*330delinsGAGGTCTACCACA	ENSP00000514615.2:n.*318_*330delinsGAGGTCTACCACA
ENST00000699840.2:c.919_931delinsGAGGTCTACCACA	ENSP00000514638.2:p.Glu307=
ENST00000699930.2:c.814_826delinsGAGGTCTACCACA	ENSP00000514695.2:p.Glu272=
ENST00000406569.8:c.922_934delinsGAGGTCTACCACA	ENSP00000514464.1:p.Glu308=
ENST00000644110.2:c.*516_*528delinsGAGGTCTACCACA	ENSP00000496392.2:n.*516_*528delinsGAGGTCTACCACA
ENST00000699752.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514561.1:p.Glu308=
ENST00000699753.1:c.*221_*233delinsGAGGTCTACCACA	ENSP00000514562.1:n.*221_*233delinsGAGGTCTACCACA
ENST00000699754.1:c.724_736delinsGAGGTCTACCACA	ENSP00000514563.1:p.Glu242=
ENST00000699755.1:c.*321_*333delinsGAGGTCTACCACA	ENSP00000514564.1:n.*321_*333delinsGAGGTCTACCACA
ENST00000699756.1:c.*509_*521delinsGAGGTCTACCACA	ENSP00000514565.1:n.*509_*521delinsGAGGTCTACCACA
ENST00000699757.1:c.*179_*191delinsGAGGTCTACCACA	ENSP00000514566.1:n.*179_*191delinsGAGGTCTACCACA
ENST00000699758.1:c.*179_*191delinsGAGGTCTACCACA	ENSP00000514567.1:n.*179_*191delinsGAGGTCTACCACA
ENST00000699759.1:n.1776_1788delinsGAGGTCTACCACA
ENST00000699760.1:c.604_616delinsGAGGTCTACCACA	ENSP00000514568.1:p.Glu202=
ENST00000699761.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514569.1:p.Glu173=
ENST00000699762.1:c.349_361delinsGAGGTCTACCACA	ENSP00000514570.1:p.Glu117=
ENST00000699763.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514571.1:p.Glu173=
ENST00000699764.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514572.1:p.Glu308=
ENST00000699765.1:c.*18_*30delinsGAGGTCTACCACA	ENSP00000514573.1:n.*18_*30delinsGAGGTCTACCACA
ENST00000699766.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514574.1:p.Glu308=
ENST00000699767.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514575.1:p.Glu308=
ENST00000699768.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514576.1:p.Glu308=
ENST00000699811.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514614.1:p.Glu173=
ENST00000699813.1:n.1035_1047delinsGAGGTCTACCACA
ENST00000699814.1:c.545_557delinsGAGGTCTACCACA
ENST00000699815.1:c.*414_*426delinsGAGGTCTACCACA	ENSP00000514616.1:n.*414_*426delinsGAGGTCTACCACA
ENST00000699816.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514617.1:p.Glu173=
ENST00000699817.1:c.*516_*528delinsGAGGTCTACCACA	ENSP00000514618.1:n.*516_*528delinsGAGGTCTACCACA
ENST00000699818.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514619.1:p.Glu173=
ENST00000699819.1:c.*79_*91delinsGAGGTCTACCACA	ENSP00000514620.1:n.*79_*91delinsGAGGTCTACCACA
ENST00000699820.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514621.1:p.Glu308=
ENST00000699821.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514622.1:p.Glu173=
ENST00000699822.1:c.*374_*386delinsGAGGTCTACCACA	ENSP00000514623.1:n.*374_*386delinsGAGGTCTACCACA
ENST00000699823.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514624.1:p.Glu173=
ENST00000699824.1:c.*425_*437delinsGAGGTCTACCACA	ENSP00000514625.1:n.*425_*437delinsGAGGTCTACCACA
ENST00000699825.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514626.1:p.Glu173=
ENST00000699826.1:c.*321_*333delinsGAGGTCTACCACA	ENSP00000514627.1:n.*321_*333delinsGAGGTCTACCACA
ENST00000699827.1:c.754_766delinsGAGGTCTACCACA	ENSP00000514628.1:p.Glu252=
ENST00000699828.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514629.1:p.Glu308=
ENST00000699829.1:c.*423_*435delinsGAGGTCTACCACA	ENSP00000514630.1:n.*423_*435delinsGAGGTCTACCACA
ENST00000699830.1:c.*321_*333delinsGAGGTCTACCACA	ENSP00000514631.1:n.*321_*333delinsGAGGTCTACCACA
ENST00000699833.1:n.2694_2706delinsGAGGTCTACCACA
ENST00000699837.1:c.517_529delinsGAGGTCTACCACA	ENSP00000514635.1:p.Glu173=
ENST00000699838.1:c.*822_*834delinsGAGGTCTACCACA	ENSP00000514636.1:n.*822_*834delinsGAGGTCTACCACA
ENST00000699839.1:c.1108_1120delinsGAGGTCTACCACA	ENSP00000514637.1:p.Glu370=
ENST00000699840.1:c.919_931delinsGAGGTCTACCACA	ENSP00000514638.1:p.Glu307=
ENST00000699916.1:c.*179_*191delinsGAGGTCTACCACA	ENSP00000514684.1:n.*179_*191delinsGAGGTCTACCACA
ENST00000699917.1:c.*371_*383delinsGAGGTCTACCACA	ENSP00000514685.1:n.*371_*383delinsGAGGTCTACCACA
ENST00000699918.1:c.*423_*435delinsGAGGTCTACCACA	ENSP00000514686.1:n.*423_*435delinsGAGGTCTACCACA
ENST00000699919.1:c.*509_*521delinsGAGGTCTACCACA	ENSP00000514687.1:n.*509_*521delinsGAGGTCTACCACA
ENST00000699920.1:c.*558_*570delinsGAGGTCTACCACA	ENSP00000514688.1:n.*558_*570delinsGAGGTCTACCACA
ENST00000699928.1:c.922_934delinsGAGGTCTACCACA	ENSP00000514693.1:p.Glu308=
ENST00000699929.1:c.*223_*235delinsGAGGTCTACCACA	ENSP00000514694.1:n.*223_*235delinsGAGGTCTACCACA
ENST00000699930.1:c.814_826delinsGAGGTCTACCACA	ENSP00000514695.1:p.Glu272=
ENST00000699931.1:n.2350_2362delinsGAGGTCTACCACA
ENST00000699932.1:c.*18_*30delinsGAGGTCTACCACA	ENSP00000514696.1:n.*18_*30delinsGAGGTCTACCACA
ENST00000699933.1:n.902_914delinsGAGGTCTACCACA
ENST00000699951.1:c.*18_*30delinsGAGGTCTACCACA	ENSP00000514706.1:n.*18_*30delinsGAGGTCTACCACA
ENST00000699952.1:c.803+5287_803+5299delinsGAGGTCTACCACA	ENSP00000514707.1:n.803+5287_803+5299delinsGAGGTCTACCACA
ENST00000699953.1:c.*29_*41delinsGAGGTCTACCACA	ENSP00000514708.1:n.*29_*41delinsGAGGTCTACCACA
ENST00000699954.1:c.*223_*235delinsGAGGTCTACCACA	ENSP00000514709.1:n.*223_*235delinsGAGGTCTACCACA
ENST00000265849.12:c.922_934delinsGAGGTCTACCACA MANE Select	ENSP00000265849.7:p.Glu308=
ENST00000642292.1:c.517_529delinsGAGGTCTACCACA	ENSP00000495524.1:p.Glu173=
ENST00000642456.1:c.517_529delinsGAGGTCTACCACA	ENSP00000493814.1:p.Glu173=
ENST00000643595.1:c.*321_*333delinsGAGGTCTACCACA	ENSP00000494497.1:n.*321_*333delinsGAGGTCTACCACA
ENST00000644110.1:c.604_616delinsGAGGTCTACCACA	ENSP00000496392.1:p.Glu202=
ENST00000265849.11:c.922_934delinsGAGGTCTACCACA	ENSP00000265849.7:p.Glu308=
ENST00000382321.5:c.803+5287_803+5299delinsGAGGTCTACCACA	ENSP00000371758.4:n.803+5287_803+5299delinsGAGGTCTACCACA
ENST00000406569.7:n.922_934delinsGAGGTCTACCACA
ENST00000441476.6:c.604_616delinsGAGGTCTACCACA	ENSP00000392843.2:p.Glu202=
ENST00000469652.1:n.63-9134_63-9122delinsGAGGTCTACCACA
NM_000535.5:c.922_934delinsGAGGTCTACCACA , LRG_161t1:c.922_934delinsGAGGTCTACCACA	NP_000526.1:p.Glu308=
NR_003085.2:n.1004_1016delinsGAGGTCTACCACA
XM_006715742.2:c.916_928delinsGAGGTCTACCACA	XP_006715805.1:p.Glu306=
XM_006715744.2:c.-12_1delinsGAGGTCTACCACA
XM_011515427.1:c.967_979delinsGAGGTCTACCACA	XP_011513729.1:p.Glu323=
XM_011515428.1:c.967_979delinsGAGGTCTACCACA	XP_011513730.1:p.Glu323=
XM_011515429.1:c.604_616delinsGAGGTCTACCACA	XP_011513731.1:p.Glu202=
XM_011515430.1:c.604_616delinsGAGGTCTACCACA	XP_011513732.1:p.Glu202=
NM_000535.6:c.922_934delinsGAGGTCTACCACA	NP_000526.2:p.Glu308=
NM_001322003.1:c.517_529delinsGAGGTCTACCACA	NP_001308932.1:p.Glu173=
NM_001322004.1:c.517_529delinsGAGGTCTACCACA	NP_001308933.1:p.Glu173=
NM_001322005.1:c.517_529delinsGAGGTCTACCACA	NP_001308934.1:p.Glu173=
NM_001322006.1:c.922_934delinsGAGGTCTACCACA	NP_001308935.1:p.Glu308=
NM_001322007.1:c.604_616delinsGAGGTCTACCACA	NP_001308936.1:p.Glu202=
NM_001322008.1:c.604_616delinsGAGGTCTACCACA	NP_001308937.1:p.Glu202=
NM_001322009.1:c.517_529delinsGAGGTCTACCACA	NP_001308938.1:p.Glu173=
NM_001322010.1:c.517_529delinsGAGGTCTACCACA	NP_001308939.1:p.Glu173=
NM_001322011.1:c.-12_1delinsGAGGTCTACCACA
NM_001322012.1:c.-12_1delinsGAGGTCTACCACA
NM_001322013.1:c.349_361delinsGAGGTCTACCACA	NP_001308942.1:p.Glu117=
NM_001322014.1:c.922_934delinsGAGGTCTACCACA	NP_001308943.1:p.Glu308=
NM_001322015.1:c.613_625delinsGAGGTCTACCACA	NP_001308944.1:p.Glu205=
NR_136154.1:n.1009_1021delinsGAGGTCTACCACA
XM_006715744.4:c.-12_1delinsGAGGTCTACCACA
XM_017012342.2:c.-12_1delinsGAGGTCTACCACA
XM_024446800.1:c.517_529delinsGAGGTCTACCACA	XP_024302568.1:p.Glu173=
NM_000535.7:c.922_934delinsGAGGTCTACCACA MANE Select	NP_000526.2:p.Glu308=
NM_001322003.2:c.517_529delinsGAGGTCTACCACA	NP_001308932.1:p.Glu173=
NM_001322004.2:c.517_529delinsGAGGTCTACCACA	NP_001308933.1:p.Glu173=
NM_001322005.2:c.517_529delinsGAGGTCTACCACA	NP_001308934.1:p.Glu173=
NM_001322006.2:c.922_934delinsGAGGTCTACCACA	NP_001308935.1:p.Glu308=
NM_001322008.2:c.604_616delinsGAGGTCTACCACA	NP_001308937.1:p.Glu202=
NM_001322009.2:c.517_529delinsGAGGTCTACCACA	NP_001308938.1:p.Glu173=
NM_001322010.2:c.517_529delinsGAGGTCTACCACA	NP_001308939.1:p.Glu173=
NM_001322011.2:c.-12_1delinsGAGGTCTACCACA
NM_001322012.2:c.-12_1delinsGAGGTCTACCACA
NM_001322013.2:c.349_361delinsGAGGTCTACCACA	NP_001308942.1:p.Glu117=
NM_001322014.2:c.922_934delinsGAGGTCTACCACA	NP_001308943.1:p.Glu308=
NM_001322015.2:c.613_625delinsGAGGTCTACCACA	NP_001308944.1:p.Glu205=
NM_001322007.2:c.604_616delinsGAGGTCTACCACA	NP_001308936.1:p.Glu202=