Transcript #00000155 (NM_000051.3, ATM gene)

Transcript name ataxia telangiectasia mutated
Gene name ATM (ataxia telangiectasia mutated)
Chromosome 11
Transcript - NCBI ID NM_000051.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000042.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

5612 entries on 57 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-111G>A r.(=) p.(=)
-/. - c.-30-79A>G r.(=) p.(=)
-?/. - c.-30-57_-30-54del r.(=) p.(=)
-?/. - c.-30-56T>C r.(=) p.(=)
-?/. - c.-30-44T>C r.(=) p.(=)
-?/. - c.-18G>A r.(?) p.(=)
?/. 21 c.? r.2839_2921del p.Tyr947fs
?/. 21 c.? r.2839_2921del p.Tyr947fs
?/. 21 c.? r.2839_2921del p.Tyr947fs
?/. 21 c.? r.2839_2921del p.Tyr947fs
?/. 21 c.? r.2839_2921del p.Tyr947fs
?/. 45 c.? r.6199_6347del149 p.Ala2067Glnfs*10
?/. 33 c.? r.4612_4776del165 p.Val1538_Glu1592del55
?/. 45 c.? r.6199_6347del149 p.Ala2067Glnfs*10
?/. 33 c.? r.4612_4776del165 p.Val1538_Glu1592del55
?/. 56 c.? r.7928_8010del83 p.Lys2643Serfs*17
?/. 34 c.? r.4777_6006del p.Glu1593_Gln2002del
?/. 34 c.? r.4777_6006del p.Glu1593_Gln2002del
?/. 34 c.? r.4777_5674del p.Glu1593Serfs*25
?/. 46 c.? r.6348_6452del105 p.Ser2116_Ala2150del
?/. 46 c.? r.6348_6452del105 p.Ser2116_Ala2150del
?/. 23 c.? r.3078_3284del p.Tyr1026*
?/. 34 c.? r.4777_5005del p.Glu1593Argfs*13
?/. 48 c.? r.5675_5762del p.Glu1892Aspfs*16
?/. 37 c.? r.5178_5319del142 p.Val1727Phefs*2
?/. 8 c.? r.497_8010del7514 p.Glu166fs
?/. 8 c.? r.497_8010del7514 p.Glu166fs
?/. 50 c.? r.6976_7089del114 p.Asn2326_Lys2363del
?/. 38 c.? r.5320_5674del p.Phe1774Serfs*25
?/. 38 c.? r.5320_5326del7 p.Phe1774Lysfs*17
?/. 38 c.? r.5319_5320ins9 p.Lys1773_Phe1774 insValSer*
?/. 8 c.? r.497_662del p.Glu166fs
?/. 59 c.? r.8269_8584del p.Val2757Leufs*16
?/. 59 c.? r.8269_8418del150 p.Val2757_Met2806del
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58
?/. 26 c.? r.3404_3576del174 p.Ser1135_Lys1192del58
?/. 4 c.? r.-30_185del p.0?
?/. 40 c.? r.5675_5762del88 p.Glu1892Aspfs*16
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 16 c.? r.2125_2250del126 p.Glu709_Lys750del42
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 54 c.? r.7630_7788del p.Leu2544_Glu2596del
?/. 62 c.? r.8672_8850del179 p.Val2892Profs*4
?/. 17 c.? r.2250_2251ins9 p.?
?/. 17 c.? r.2250_2251ins9 p.?
?/. 17 c.? r.2250_2251ins9 p.?
?/. 17 c.? r.2251_2376del p.Ser751_Lys792del42
?/. 17 c.? r.2251_2376del p.Ser751_Lys792del42
?/. 17 c.? r.2250_2251ins9 p.?
?/. 4 c.? r.-30_185del p.?
+/. 18 c.? r.2377_2466del p.Lys793_Leu822del30
?/. 18 c.? r.2377_2466del p.Lys793_Leu822del30
?/. 43 c.? r.6007_6095del89 p.Asp2003Thrfs*5
?/. 6 c.? r.186_331del p.Phe63fs
?/. 19 c.? r.2467_2838del p.Ala823_Met946del124
?/. 19 c.? r.2467_2838del p.Ala823_Met946del124
?/. 30 c.? r.4110_4236del127 p.Asp1371Ilefs*38
?/. 30 c.? r.4110_4236del127 p.Asp1371Ilefs*38
?/. 30 c.? r.4110_4162del53 p.?
?/. 20 c.? r.2639_2838del p.Gly880fs
?/. 20 c.? r.2639_2838del p.Gly880fs
?/. 20 c.? r.2639_2838del p.Gly880fs
?/. 20 c.? r.2639_2838del p.Gly880fs
?/. - c.1A>G r.? p.?
+/. - c.1A>G r.(?) p.(Met1?)
?/. - c.1A>G r.? p.?
+/. 4 c.2T>C r.(?) p.0?
+/. 4 c.2T>C r.(?) p.0?
+/. 4 c.2T>C r.(?) p.0?
?/. - c.2T>C r.? p.?
+/. 4 c.2T>C r.(?) p.0?
?/. - c.3G>A r.? p.?
+/. 4 c.3G>A r.(?) p.0?
?/. - c.3G>A r.? p.?
+/. 4 c.3G>A r.(?) p.0?
?/. 2 c.13C>A r.(?) p.(Leu5Ile)
?/. - c.13C>G r.(?) p.(Leu5Val)
?/. 2 c.22C>T r.(?) p.(=)
?/. - c.25C>A r.(?) p.(Leu9Ile)
?/. 4 c.27del r.(?) p.(Ile10Serfs*6)
?/. 4 c.27del r.(?) p.(Ile10Serfs*6)
?/. - c.37C>T r.(?) p.(Arg13Cys)
?/. - c.37C>T r.(?) p.(Arg13Cys)
-?/. - c.37C>T r.(?) p.(Arg13Cys)
?/. - c.37C>T r.(?) p.(Arg13Cys)
?/. 2 c.37C>T r.(?) p.(Arg13Cys)
?/. - c.38G>A r.(?) p.(Arg13His)
?/. - c.38G>A r.(?) p.(Arg13His)
?/. - c.43del r.(?) p.(Leu15*)
?/. - c.43del r.(?) p.(Leu15*)
?/. - c.49C>A r.(?) p.(His17Asn)
?/. - c.49C>A r.(?) p.(His17Asn)
?/. - c.50A>G r.(?) p.(His17Arg)
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