Canonical Allele Identifier: CA1097990015
Gene: PMS2 HGNC NCBI

Linked Data

gnomAD v3: 7-5986499-C-CT
gnomAD v4: 7-5986499-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5986499_5986500insT , CM000669.2:g.5986499_5986500insT GRCh38
NC_000007.13:g.6026130_6026131insT , CM000669.1:g.6026130_6026131insT GRCh37
NC_000007.12:g.5992656_5992657insT NCBI36
NG_008466.1:g.27607_27608insA , LRG_161:g.27607_27608insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*1402+259_*1402+260insA ENSP00000514615.2:n.*1402+259_*1402+260insA
ENST00000699840.2:c.2003+259_2003+260insA ENSP00000514638.2:n.2003+259_2003+260insA
ENST00000699930.2:c.1898+259_1898+260insA ENSP00000514695.2:n.1898+259_1898+260insA
ENST00000406569.8:c.1678+587_1678+588insA ENSP00000514464.1:n.1678+587_1678+588insA
ENST00000644110.2:c.*1600+259_*1600+260insA ENSP00000496392.2:n.*1600+259_*1600+260insA
ENST00000699752.1:c.1850+259_1850+260insA ENSP00000514561.1:n.1850+259_1850+260insA
ENST00000699753.1:c.*1427+259_*1427+260insA ENSP00000514562.1:n.*1427+259_*1427+260insA
ENST00000699754.1:c.1808+259_1808+260insA ENSP00000514563.1:n.1808+259_1808+260insA
ENST00000699755.1:c.*1405+259_*1405+260insA ENSP00000514564.1:n.*1405+259_*1405+260insA
ENST00000699756.1:c.*1593+259_*1593+260insA ENSP00000514565.1:n.*1593+259_*1593+260insA
ENST00000699757.1:c.*1263+259_*1263+260insA ENSP00000514566.1:n.*1263+259_*1263+260insA
ENST00000699758.1:c.*1263+259_*1263+260insA ENSP00000514567.1:n.*1263+259_*1263+260insA
ENST00000699759.1:n.2860+259_2860+260insA
ENST00000699760.1:c.1688+259_1688+260insA ENSP00000514568.1:n.1688+259_1688+260insA
ENST00000699761.1:c.1601+259_1601+260insA ENSP00000514569.1:n.1601+259_1601+260insA
ENST00000699762.1:c.1433+259_1433+260insA ENSP00000514570.1:n.1433+259_1433+260insA
ENST00000699763.1:c.*1096+259_*1096+260insA ENSP00000514571.1:n.*1096+259_*1096+260insA
ENST00000699764.1:c.*324+259_*324+260insA ENSP00000514572.1:n.*324+259_*324+260insA
ENST00000699765.1:c.*1102+259_*1102+260insA ENSP00000514573.1:n.*1102+259_*1102+260insA
ENST00000699766.1:c.2006+259_2006+260insA ENSP00000514574.1:n.2006+259_2006+260insA
ENST00000699767.1:c.2006+259_2006+260insA ENSP00000514575.1:n.2006+259_2006+260insA
ENST00000699768.1:c.2006+259_2006+260insA ENSP00000514576.1:n.2006+259_2006+260insA
ENST00000699811.1:c.1601+259_1601+260insA ENSP00000514614.1:n.1601+259_1601+260insA
ENST00000699813.1:n.2119+259_2119+260insA
ENST00000699814.1:c.1629+259_1629+260insA
ENST00000699815.1:c.*1537+259_*1537+260insA ENSP00000514616.1:n.*1537+259_*1537+260insA
ENST00000699816.1:c.*896+259_*896+260insA ENSP00000514617.1:n.*896+259_*896+260insA
ENST00000699817.1:c.*1600+259_*1600+260insA ENSP00000514618.1:n.*1600+259_*1600+260insA
ENST00000699818.1:c.1601+259_1601+260insA ENSP00000514619.1:n.1601+259_1601+260insA
ENST00000699819.1:c.*1163+259_*1163+260insA ENSP00000514620.1:n.*1163+259_*1163+260insA
ENST00000699820.1:c.1144+3300_1144+3301insA ENSP00000514621.1:n.1144+3300_1144+3301insA
ENST00000699821.1:c.1601+259_1601+260insA ENSP00000514622.1:n.1601+259_1601+260insA
ENST00000699822.1:c.*1458+259_*1458+260insA ENSP00000514623.1:n.*1458+259_*1458+260insA
ENST00000699823.1:c.1601+259_1601+260insA ENSP00000514624.1:n.1601+259_1601+260insA
ENST00000699824.1:c.*1509+259_*1509+260insA ENSP00000514625.1:n.*1509+259_*1509+260insA
ENST00000699825.1:c.1445+259_1445+260insA ENSP00000514626.1:n.1445+259_1445+260insA
ENST00000699826.1:c.*1405+259_*1405+260insA ENSP00000514627.1:n.*1405+259_*1405+260insA
ENST00000699827.1:c.1838+259_1838+260insA ENSP00000514628.1:n.1838+259_1838+260insA
ENST00000699828.1:c.*1096+259_*1096+260insA ENSP00000514629.1:n.*1096+259_*1096+260insA
ENST00000699833.1:n.3778+259_3778+260insA
ENST00000699837.1:c.1601+259_1601+260insA ENSP00000514635.1:n.1601+259_1601+260insA
ENST00000699838.1:c.*1906+259_*1906+260insA ENSP00000514636.1:n.*1906+259_*1906+260insA
ENST00000699839.1:c.2192+259_2192+260insA ENSP00000514637.1:n.2192+259_2192+260insA
ENST00000699916.1:c.*1263+259_*1263+260insA ENSP00000514684.1:n.*1263+259_*1263+260insA
ENST00000699917.1:c.*1455+259_*1455+260insA ENSP00000514685.1:n.*1455+259_*1455+260insA
ENST00000699918.1:c.*1507+259_*1507+260insA ENSP00000514686.1:n.*1507+259_*1507+260insA
ENST00000699919.1:c.*1593+259_*1593+260insA ENSP00000514687.1:n.*1593+259_*1593+260insA
ENST00000699920.1:c.*1642+259_*1642+260insA ENSP00000514688.1:n.*1642+259_*1642+260insA
ENST00000699928.1:c.989-3509_989-3508insA ENSP00000514693.1:n.989-3509_989-3508insA
ENST00000699951.1:c.*1102+259_*1102+260insA ENSP00000514706.1:n.*1102+259_*1102+260insA
ENST00000699952.1:c.803+10826_803+10827insA ENSP00000514707.1:n.803+10826_803+10827insA
ENST00000265849.12:c.2006+259_2006+260insA MANE Select ENSP00000265849.7:n.2006+259_2006+260insA
ENST00000642292.1:c.1601+259_1601+260insA ENSP00000495524.1:n.1601+259_1601+260insA
ENST00000642456.1:c.1601+259_1601+260insA ENSP00000493814.1:n.1601+259_1601+260insA
ENST00000643595.1:c.*1405+259_*1405+260insA ENSP00000494497.1:n.*1405+259_*1405+260insA
ENST00000644110.1:c.1688+259_1688+260insA ENSP00000496392.1:n.1688+259_1688+260insA
ENST00000265849.11:c.2006+259_2006+260insA ENSP00000265849.7:n.2006+259_2006+260insA
ENST00000382321.5:c.804-3509_804-3508insA ENSP00000371758.4:n.804-3509_804-3508insA
ENST00000406569.7:n.1678+587_1678+588insA
ENST00000441476.6:c.1688+259_1688+260insA ENSP00000392843.2:n.1688+259_1688+260insA
ENST00000469652.1:n.63-3595_63-3594insA
NM_000535.5:c.2006+259_2006+260insA , LRG_161t1:c.2006+259_2006+260insA NP_000526.1:n.2006+259_2006+260insA
NR_003085.2:n.2088+259_2088+260insA
XM_006715742.2:c.2000+259_2000+260insA XP_006715805.1:n.2000+259_2000+260insA
XM_006715744.2:c.1073+259_1073+260insA XP_006715807.1:n.1073+259_1073+260insA
XM_011515427.1:c.2051+259_2051+260insA XP_011513729.1:n.2051+259_2051+260insA
XM_011515428.1:c.1895+259_1895+260insA XP_011513730.1:n.1895+259_1895+260insA
XM_011515429.1:c.1688+259_1688+260insA XP_011513731.1:n.1688+259_1688+260insA
XM_011515430.1:c.1688+259_1688+260insA XP_011513732.1:n.1688+259_1688+260insA
NM_000535.6:c.2006+259_2006+260insA NP_000526.2:n.2006+259_2006+260insA
NM_001322003.1:c.1601+259_1601+260insA NP_001308932.1:n.1601+259_1601+260insA
NM_001322004.1:c.1601+259_1601+260insA NP_001308933.1:n.1601+259_1601+260insA
NM_001322005.1:c.1601+259_1601+260insA NP_001308934.1:n.1601+259_1601+260insA
NM_001322006.1:c.1850+259_1850+260insA NP_001308935.1:n.1850+259_1850+260insA
NM_001322007.1:c.1688+259_1688+260insA NP_001308936.1:n.1688+259_1688+260insA
NM_001322008.1:c.1688+259_1688+260insA NP_001308937.1:n.1688+259_1688+260insA
NM_001322009.1:c.1601+259_1601+260insA NP_001308938.1:n.1601+259_1601+260insA
NM_001322010.1:c.1445+259_1445+260insA NP_001308939.1:n.1445+259_1445+260insA
NM_001322011.1:c.1073+259_1073+260insA NP_001308940.1:n.1073+259_1073+260insA
NM_001322012.1:c.1073+259_1073+260insA NP_001308941.1:n.1073+259_1073+260insA
NM_001322013.1:c.1433+259_1433+260insA NP_001308942.1:n.1433+259_1433+260insA
NM_001322014.1:c.2006+259_2006+260insA NP_001308943.1:n.2006+259_2006+260insA
NM_001322015.1:c.1697+259_1697+260insA NP_001308944.1:n.1697+259_1697+260insA
NR_136154.1:n.2093+259_2093+260insA
XM_006715744.4:c.1073+259_1073+260insA XP_006715807.1:n.1073+259_1073+260insA
XM_017012342.2:c.1073+259_1073+260insA XP_016867831.1:n.1073+259_1073+260insA
XM_024446800.1:c.1445+259_1445+260insA XP_024302568.1:n.1445+259_1445+260insA
NM_000535.7:c.2006+259_2006+260insA MANE Select NP_000526.2:n.2006+259_2006+260insA
NM_001322003.2:c.1601+259_1601+260insA NP_001308932.1:n.1601+259_1601+260insA
NM_001322004.2:c.1601+259_1601+260insA NP_001308933.1:n.1601+259_1601+260insA
NM_001322005.2:c.1601+259_1601+260insA NP_001308934.1:n.1601+259_1601+260insA
NM_001322006.2:c.1850+259_1850+260insA NP_001308935.1:n.1850+259_1850+260insA
NM_001322008.2:c.1688+259_1688+260insA NP_001308937.1:n.1688+259_1688+260insA
NM_001322009.2:c.1601+259_1601+260insA NP_001308938.1:n.1601+259_1601+260insA
NM_001322010.2:c.1445+259_1445+260insA NP_001308939.1:n.1445+259_1445+260insA
NM_001322011.2:c.1073+259_1073+260insA NP_001308940.1:n.1073+259_1073+260insA
NM_001322012.2:c.1073+259_1073+260insA NP_001308941.1:n.1073+259_1073+260insA
NM_001322013.2:c.1433+259_1433+260insA NP_001308942.1:n.1433+259_1433+260insA
NM_001322014.2:c.2006+259_2006+260insA NP_001308943.1:n.2006+259_2006+260insA
NM_001322015.2:c.1697+259_1697+260insA NP_001308944.1:n.1697+259_1697+260insA
NM_001322007.2:c.1688+259_1688+260insA NP_001308936.1:n.1688+259_1688+260insA
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