Canonical Allele Identifier: CA1685261622
Gene: PMS2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5997387_5997396delinsTAGGGGGCAG , CM000669.2:g.5997387_5997396delinsTAGGGGGCAG GRCh38
NC_000007.13:g.6037018_6037027delinsTAGGGGGCAG , CM000669.1:g.6037018_6037027delinsTAGGGGGCAG GRCh37
NC_000007.12:g.6003544_6003553delinsTAGGGGGCAG NCBI36
NG_008466.1:g.16711_16720delinsCTGCCCCCTA , LRG_161:g.16711_16720delinsCTGCCCCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000699814.2:c.*299+1712_*299+1721delinsCTGCCCCCTA ENSP00000514615.2:n.*299+1712_*299+1721delinsCTGCCCCCTA
ENST00000699840.2:c.730_739delinsCTGCCCCCTA ENSP00000514638.2:p.Leu244=
ENST00000699930.2:c.625_634delinsCTGCCCCCTA ENSP00000514695.2:p.Leu209=
ENST00000406569.8:c.733_742delinsCTGCCCCCTA ENSP00000514464.1:p.Leu245=
ENST00000644110.2:c.*327_*336delinsCTGCCCCCTA ENSP00000496392.2:n.*327_*336delinsCTGCCCCCTA
ENST00000699752.1:c.733_742delinsCTGCCCCCTA ENSP00000514561.1:p.Leu245=
ENST00000699753.1:c.*132_*141delinsCTGCCCCCTA ENSP00000514562.1:n.*132_*141delinsCTGCCCCCTA
ENST00000699754.1:c.705+1712_705+1721delinsCTGCCCCCTA ENSP00000514563.1:n.705+1712_705+1721delinsCTGCCCCCTA
ENST00000699755.1:c.*132_*141delinsCTGCCCCCTA ENSP00000514564.1:n.*132_*141delinsCTGCCCCCTA
ENST00000699756.1:c.*320_*329delinsCTGCCCCCTA ENSP00000514565.1:n.*320_*329delinsCTGCCCCCTA
ENST00000699757.1:c.182_191delinsCTGCCCCCTA ENSP00000514566.1:p.Ala61=
ENST00000699758.1:c.446_455delinsCTGCCCCCTA ENSP00000514567.1:p.Ala149=
ENST00000699759.1:n.805_814delinsCTGCCCCCTA
ENST00000699760.1:c.415_424delinsCTGCCCCCTA ENSP00000514568.1:p.Leu139=
ENST00000699761.1:c.328_337delinsCTGCCCCCTA ENSP00000514569.1:p.Leu110=
ENST00000699762.1:c.160_169delinsCTGCCCCCTA ENSP00000514570.1:p.Leu54=
ENST00000699763.1:c.328_337delinsCTGCCCCCTA ENSP00000514571.1:p.Leu110=
ENST00000699764.1:c.733_742delinsCTGCCCCCTA ENSP00000514572.1:p.Leu245=
ENST00000699765.1:c.415_424delinsCTGCCCCCTA ENSP00000514573.1:p.Leu139=
ENST00000699766.1:c.733_742delinsCTGCCCCCTA ENSP00000514574.1:p.Leu245=
ENST00000699767.1:c.733_742delinsCTGCCCCCTA ENSP00000514575.1:p.Leu245=
ENST00000699768.1:c.733_742delinsCTGCCCCCTA ENSP00000514576.1:p.Leu245=
ENST00000699811.1:c.328_337delinsCTGCCCCCTA ENSP00000514614.1:p.Leu110=
ENST00000699813.1:n.846_855delinsCTGCCCCCTA
ENST00000699814.1:c.526+1712_526+1721delinsCTGCCCCCTA
ENST00000699815.1:c.*234_*243delinsCTGCCCCCTA ENSP00000514616.1:n.*234_*243delinsCTGCCCCCTA
ENST00000699816.1:c.328_337delinsCTGCCCCCTA ENSP00000514617.1:p.Leu110=
ENST00000699817.1:c.*327_*336delinsCTGCCCCCTA ENSP00000514618.1:n.*327_*336delinsCTGCCCCCTA
ENST00000699818.1:c.328_337delinsCTGCCCCCTA ENSP00000514619.1:p.Leu110=
ENST00000699819.1:c.266_275delinsCTGCCCCCTA ENSP00000514620.1:p.Ala89=
ENST00000699820.1:c.733_742delinsCTGCCCCCTA ENSP00000514621.1:p.Leu245=
ENST00000699821.1:c.328_337delinsCTGCCCCCTA ENSP00000514622.1:p.Leu110=
ENST00000699822.1:c.*185_*194delinsCTGCCCCCTA ENSP00000514623.1:n.*185_*194delinsCTGCCCCCTA
ENST00000699823.1:c.328_337delinsCTGCCCCCTA ENSP00000514624.1:p.Leu110=
ENST00000699824.1:c.*236_*245delinsCTGCCCCCTA ENSP00000514625.1:n.*236_*245delinsCTGCCCCCTA
ENST00000699825.1:c.328_337delinsCTGCCCCCTA ENSP00000514626.1:p.Leu110=
ENST00000699826.1:c.*132_*141delinsCTGCCCCCTA ENSP00000514627.1:n.*132_*141delinsCTGCCCCCTA
ENST00000699827.1:c.565_574delinsCTGCCCCCTA ENSP00000514628.1:p.Leu189=
ENST00000699828.1:c.733_742delinsCTGCCCCCTA ENSP00000514629.1:p.Leu245=
ENST00000699829.1:c.*234_*243delinsCTGCCCCCTA ENSP00000514630.1:n.*234_*243delinsCTGCCCCCTA
ENST00000699830.1:c.*132_*141delinsCTGCCCCCTA ENSP00000514631.1:n.*132_*141delinsCTGCCCCCTA
ENST00000699831.1:n.645_654delinsCTGCCCCCTA
ENST00000699832.1:n.1016_1025delinsCTGCCCCCTA
ENST00000699833.1:n.813_822delinsCTGCCCCCTA
ENST00000699837.1:c.328_337delinsCTGCCCCCTA ENSP00000514635.1:p.Leu110=
ENST00000699838.1:c.*633_*642delinsCTGCCCCCTA ENSP00000514636.1:n.*633_*642delinsCTGCCCCCTA
ENST00000699839.1:c.919_928delinsCTGCCCCCTA ENSP00000514637.1:p.Leu307=
ENST00000699840.1:c.730_739delinsCTGCCCCCTA ENSP00000514638.1:p.Leu244=
ENST00000699916.1:c.281_290delinsCTGCCCCCTA ENSP00000514684.1:p.Ala94=
ENST00000699917.1:c.*182_*191delinsCTGCCCCCTA ENSP00000514685.1:n.*182_*191delinsCTGCCCCCTA
ENST00000699918.1:c.*234_*243delinsCTGCCCCCTA ENSP00000514686.1:n.*234_*243delinsCTGCCCCCTA
ENST00000699919.1:c.*320_*329delinsCTGCCCCCTA ENSP00000514687.1:n.*320_*329delinsCTGCCCCCTA
ENST00000699920.1:c.*369_*378delinsCTGCCCCCTA ENSP00000514688.1:n.*369_*378delinsCTGCCCCCTA
ENST00000699928.1:c.733_742delinsCTGCCCCCTA ENSP00000514693.1:p.Leu245=
ENST00000699929.1:c.*104+1712_*104+1721delinsCTGCCCCCTA ENSP00000514694.1:n.*104+1712_*104+1721delinsCTGCCCCCTA
ENST00000699930.1:c.625_634delinsCTGCCCCCTA ENSP00000514695.1:p.Leu209=
ENST00000699931.1:n.844_853delinsCTGCCCCCTA
ENST00000699932.1:c.733_742delinsCTGCCCCCTA ENSP00000514696.1:p.Leu245=
ENST00000699933.1:n.813_822delinsCTGCCCCCTA
ENST00000699951.1:c.733_742delinsCTGCCCCCTA ENSP00000514706.1:p.Leu245=
ENST00000699952.1:c.733_742delinsCTGCCCCCTA ENSP00000514707.1:p.Leu245=
ENST00000699953.1:c.705+1712_705+1721delinsCTGCCCCCTA ENSP00000514708.1:n.705+1712_705+1721delinsCTGCCCCCTA
ENST00000699954.1:c.*104+1712_*104+1721delinsCTGCCCCCTA ENSP00000514709.1:n.*104+1712_*104+1721delinsCTGCCCCCTA
ENST00000265849.12:c.733_742delinsCTGCCCCCTA MANE Select ENSP00000265849.7:p.Leu245=
ENST00000642292.1:c.328_337delinsCTGCCCCCTA ENSP00000495524.1:p.Leu110=
ENST00000642456.1:c.328_337delinsCTGCCCCCTA ENSP00000493814.1:p.Leu110=
ENST00000643595.1:c.*132_*141delinsCTGCCCCCTA ENSP00000494497.1:n.*132_*141delinsCTGCCCCCTA
ENST00000644110.1:c.415_424delinsCTGCCCCCTA ENSP00000496392.1:p.Leu139=
ENST00000265849.11:c.733_742delinsCTGCCCCCTA ENSP00000265849.7:p.Leu245=
ENST00000382321.5:c.733_742delinsCTGCCCCCTA ENSP00000371758.4:p.Leu245=
ENST00000406569.7:n.733_742delinsCTGCCCCCTA
ENST00000441476.6:c.415_424delinsCTGCCCCCTA ENSP00000392843.2:p.Leu139=
ENST00000469652.1:n.62+8597_62+8606delinsCTGCCCCCTA
NM_000535.5:c.733_742delinsCTGCCCCCTA , LRG_161t1:c.733_742delinsCTGCCCCCTA NP_000526.1:p.Leu245=
NR_003085.2:n.815_824delinsCTGCCCCCTA
XM_006715742.2:c.727_736delinsCTGCCCCCTA XP_006715805.1:p.Leu243=
XM_011515427.1:c.778_787delinsCTGCCCCCTA XP_011513729.1:p.Leu260=
XM_011515428.1:c.778_787delinsCTGCCCCCTA XP_011513730.1:p.Leu260=
XM_011515429.1:c.415_424delinsCTGCCCCCTA XP_011513731.1:p.Leu139=
XM_011515430.1:c.415_424delinsCTGCCCCCTA XP_011513732.1:p.Leu139=
NM_000535.6:c.733_742delinsCTGCCCCCTA NP_000526.2:p.Leu245=
NM_001322003.1:c.328_337delinsCTGCCCCCTA NP_001308932.1:p.Leu110=
NM_001322004.1:c.328_337delinsCTGCCCCCTA NP_001308933.1:p.Leu110=
NM_001322005.1:c.328_337delinsCTGCCCCCTA NP_001308934.1:p.Leu110=
NM_001322006.1:c.733_742delinsCTGCCCCCTA NP_001308935.1:p.Leu245=
NM_001322007.1:c.415_424delinsCTGCCCCCTA NP_001308936.1:p.Leu139=
NM_001322008.1:c.415_424delinsCTGCCCCCTA NP_001308937.1:p.Leu139=
NM_001322009.1:c.328_337delinsCTGCCCCCTA NP_001308938.1:p.Leu110=
NM_001322010.1:c.328_337delinsCTGCCCCCTA NP_001308939.1:p.Leu110=
NM_001322011.1:c.-201_-192delinsCTGCCCCCTA NP_001308940.1:n.-201_-192delinsCTGCCCCCTA
NM_001322012.1:c.-201_-192delinsCTGCCCCCTA NP_001308941.1:n.-201_-192delinsCTGCCCCCTA
NM_001322013.1:c.160_169delinsCTGCCCCCTA NP_001308942.1:p.Leu54=
NM_001322014.1:c.733_742delinsCTGCCCCCTA NP_001308943.1:p.Leu245=
NM_001322015.1:c.424_433delinsCTGCCCCCTA NP_001308944.1:p.Leu142=
NR_136154.1:n.820_829delinsCTGCCCCCTA
XM_017012342.2:c.-101_-92delinsCTGCCCCCTA XP_016867831.1:n.-101_-92delinsCTGCCCCCTA
XM_024446800.1:c.328_337delinsCTGCCCCCTA XP_024302568.1:p.Leu110=
NM_000535.7:c.733_742delinsCTGCCCCCTA MANE Select NP_000526.2:p.Leu245=
NM_001322003.2:c.328_337delinsCTGCCCCCTA NP_001308932.1:p.Leu110=
NM_001322004.2:c.328_337delinsCTGCCCCCTA NP_001308933.1:p.Leu110=
NM_001322005.2:c.328_337delinsCTGCCCCCTA NP_001308934.1:p.Leu110=
NM_001322006.2:c.733_742delinsCTGCCCCCTA NP_001308935.1:p.Leu245=
NM_001322008.2:c.415_424delinsCTGCCCCCTA NP_001308937.1:p.Leu139=
NM_001322009.2:c.328_337delinsCTGCCCCCTA NP_001308938.1:p.Leu110=
NM_001322010.2:c.328_337delinsCTGCCCCCTA NP_001308939.1:p.Leu110=
NM_001322011.2:c.-201_-192delinsCTGCCCCCTA NP_001308940.1:n.-201_-192delinsCTGCCCCCTA
NM_001322012.2:c.-201_-192delinsCTGCCCCCTA NP_001308941.1:n.-201_-192delinsCTGCCCCCTA
NM_001322013.2:c.160_169delinsCTGCCCCCTA NP_001308942.1:p.Leu54=
NM_001322014.2:c.733_742delinsCTGCCCCCTA NP_001308943.1:p.Leu245=
NM_001322015.2:c.424_433delinsCTGCCCCCTA NP_001308944.1:p.Leu142=
NM_001322007.2:c.415_424delinsCTGCCCCCTA NP_001308936.1:p.Leu139=
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