Transcript #00025414

Transcript name transcript variant 2
Gene name AHI1 (Abelson helper integration site 1)
Chromosome 6
Transcript - NCBI ID NM_017651.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_060121.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

145 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-293G>T r.(?) p.(=)
-?/. - c.-54-6C>T r.(=) p.(=)
?/. - c.-30C>A r.(?) p.(=)
-/. - c.72T>C r.(?) p.(Ser24=)
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9)
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9)
-?/. - c.108A>G r.(?) p.(Lys36=)
-?/. - c.189+12T>C r.(=) p.(=)
-?/. - c.190-9T>C r.(=) p.(=)
?/. - c.190C>A r.(?) p.(Pro64Thr)
-/. - c.198T>C r.(?) p.(Thr66=)
-?/. - c.202A>G r.(?) p.(Arg68Gly)
-/. - c.517G>A r.(?) p.(Ala173Thr)
-/. - c.517G>A r.(?) p.(Ala173Thr)
?/. - c.553G>T r.(?) p.(Asp185Tyr)
-?/. - c.653A>G r.(?) p.(Tyr218Cys)
-?/. - c.708A>G r.(?) p.(Lys236=)
-/. - c.724C>T r.(?) p.(Pro242Ser)
-/. - c.724C>T r.(?) p.(Pro242Ser)
-?/. - c.804A>C r.(?) p.(Ser268=)
?/. - c.868G>A r.(?) p.(Glu290Lys)
-/. - c.901C>A r.(?) p.(Pro301Thr)
-/. - c.932-13dup r.(=) p.(=)
-?/. - c.986G>T r.(?) p.(Arg329Leu)
./. - c.989A>G r.(?) p.(Asp330Gly)
?/. - c.989A>G r.(?) p.(Asp330Gly)
-?/. - c.990T>C r.(?) p.(Asp330=)
-?/. - c.990T>C r.(?) p.(Asp330=)
+/. - c.1052G>T r.(?) p.(Arg351Leu)
?/. - c.1093A>C r.(?) p.(Met365Leu)
?/. - c.1145A>G r.(?) p.(Asp382Gly)
-/. - c.1152-7dup r.(=) p.(=)
-?/. - c.1304G>A r.(?) p.(Arg435Gln)
-/. - c.1344+17_1344+54del r.(=) p.(=)
-?/. - c.1405T>C r.(?) p.(Cys469Arg)
?/. - c.1546G>A r.(?) p.(Glu516Lys)
?/. - c.1594G>A r.(?) p.(Val532Ile)
-/. - c.1627-92T>A r.(=) p.(=)
-/. - c.1627-9C>G r.(=) p.(=)
-?/. - c.1643G>A r.(?) p.(Arg548His)
-?/. - c.1643G>A r.(?) p.(Arg548His)
-/. - c.1680A>G r.(?) p.(Pro560=)
-/. - c.1686T>C r.(?) p.(His562=)
?/. - c.1694G>A r.(?) p.(Arg565His)
-?/. - c.1694G>A r.(?) p.(Arg565His)
-?/. - c.1725A>G r.(?) p.(Glu575=)
-/. - c.1780-14C>T r.(=) p.(=)
-/. - c.1780-14C>T r.(=) p.(=)
-/. - c.1780-14C>T r.(=) p.(=)
-?/. - c.1788T>C r.(?) p.(Arg596=)
-/. - c.1791C>T r.(?) p.(Ile597=)
-/. - c.1791C>T r.(?) p.(Ile597=)
?/. - c.1799A>G r.(?) p.(Lys600Arg)
?/. - c.1829G>A r.(?) p.(Arg610Gln)
+?/. 14 c.2029A>C r.(?) p.(Thr677Pro)
-/. - c.2036+96G>A r.(=) p.(=)
-/. - c.2037-109G>A r.(=) p.(=)
+?/. - c.2168G>A r.(?) p.(Arg723Gln)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725*)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
-/. - c.2223T>C r.(?) p.(Asp741=)
-/. - c.2223T>C r.(?) p.(Asp741=)
+?/. - c.2258A>T r.(?) p.(Asp753Val)
?/. - c.2266G>T r.(?) p.(Gly756Cys)
-/. - c.2266+9G>A r.(=) p.(=)
-/. - c.2266+152A>G r.(=) p.(=)
-?/. - c.2294C>T r.(?) p.(Thr765Ile)
-?/. - c.2350G>T r.(?) p.(Val784Leu)
-?/. - c.2373+18A>G r.(=) p.(=)
-/. - c.2374-7A>G r.(=) p.(=)
?/. - c.2441G>A r.(?) p.(Arg814His)
./. - c.2488C>T r.(?) p.(Arg830Trp)
./. - c.2488C>T r.(?) p.(Arg830Trp)
./. - c.2488C>T r.(?) p.(Arg830Trp)
./. - c.2488C>T r.(?) p.(Arg830Trp)
./. - c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
?/. - c.2488C>T r.(?) p.(Arg830Trp)
-?/. - c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
-?/. - c.2504G>C r.(?) p.(Arg835Thr)
-/. - c.2505G>A r.(?) p.(Arg835=)
-?/. - c.2505G>A r.(?) p.(Arg835=)
-/. - c.2624-6A>G r.(=) p.(=)
-/. - c.2624-6A>G r.(=) p.(=)
-?/. - c.2624-6A>G r.(=) p.(=)
?/. - c.2660A>G r.(?) p.(Lys887Arg)
?/. - c.2660A>G r.(?) p.(Lys887Arg)
?/. - c.2660A>G r.(?) p.(Lys887Arg)
-?/. - c.2794C>T r.(?) p.(Arg932Cys)
?/. - c.2798A>G r.(?) p.(Tyr933Cys)
-?/. - c.2798A>G r.(?) p.(Tyr933Cys)
-/. - c.2798A>G r.(?) p.(Tyr933Cys)
-/. - c.2808A>G r.(?) p.(Thr936=)
-?/. - c.2808A>G r.(?) p.(Thr936=)
?/. - c.2945G>T r.(?) p.(Arg982Met)
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