Transcript #00002392 (NM_015120.4, ALMS1 gene)

Transcript name Alstrom syndrome 1
Gene name ALMS1 (Alstrom syndrome 1)
Chromosome 2
Transcript - NCBI ID NM_015120.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_055935.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

669 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
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+?/. - c.? r.? p.?
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+/. - c.? r.? p.?
+/. - c.? r.? p.?
+?/. - c.? r.? p.?
?/. - c.? r.spl p.?
?/. - c.? r.? p.?
?/. - c.? r.? p.?
?/. - c.? r.? p.?
?/. - c.? r.? p.?
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?/. - c.? r.? p.?
?/. - c.? r.? p.?
?/. - c.? r.? p.?
+/. - c.? r.? p.?
+?/. - c.? r.? p.?
-?/. - c.-2A>T r.(?) p.(=)
-/. - c.35_41= r.(=) p.(Leu12=)
-/. - c.35_41= r.(=) p.(Leu12=)
-/. - c.35_41= r.(=) p.(Leu12=)
-/. - c.35_41= r.(=) p.(Leu12=)
-?/. - c.35_41= r.(=) p.(Leu12=)
-?/. - c.38_39delinsGAGGAGGA r.(?) p.(Glu13delinsGlyGlyGly)
?/. - c.51_77del r.(?) p.(Glu21_Glu29del)
+?/. - c.54_55insTAG r.(?) p.(Glu19*)
-/. - c.57_77del r.(?) p.(Glu23_Glu29del)
-?/. - c.60_61del r.(?) p.(Glu21GlyfsTer106)
-/. - c.60_77del r.(?) p.(Glu24_Glu29del)
-?/. - c.63_77del r.(?) p.(Glu25_Glu29del)
-?/. - c.63_77del r.(?) p.(Glu25_Glu29del)
-?/. - c.64del r.(?) p.(Glu22ArgfsTer20)
-/. - c.66_77del r.(?) p.(Glu26_Glu29del)
-?/. - c.66_77del r.(?) p.(Glu26_Glu29del)
-?/. - c.66_77del r.(?) p.(Glu26_Glu29del)
-/. - c.66_77del r.(?) p.(Glu26_Glu29del)
-?/. - c.66_77dup r.(?) p.(Glu26_Glu29dup)
-/. - c.69_77del r.(?) p.(Glu27_Glu29del)
-/. - c.69_77del r.(?) p.(Glu27_Glu29del)
-?/. - c.69_77del r.(?) p.(Glu27_Glu29del)
-/. - c.69_77del r.(?) p.(Glu27_Glu29del)
-/. - c.69_77del r.(?) p.(Glu27_Glu29del)
-?/. - c.69_77dup r.(?) p.(Glu27_Glu29dup)
-?/. - c.71_72insAGAGGA r.(?) p.(Glu28_Glu29dup)
-/. - c.71_72insAGAGGA r.(?) p.(Glu28_Glu29dup)
-/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-/. - c.72_77del r.(?) p.(Glu28_Glu29del)
-?/. - c.72_77dup r.(?) p.(Glu28_Glu29dup)
-/. - c.72_77dup r.(?) p.(Glu28_Glu29dup)
-?/. - c.72_77dup r.(?) p.(Glu28_Glu29dup)
-/. - c.75_77dup r.(?) p.(Glu29dup)
-/. - c.75_77dup r.(?) p.(Glu29dup)
-/. - c.75_77dup r.(?) p.(Glu29dup)
?/. - c.75_77dup r.(?) p.(Glu28dup)
-?/. - c.75_77dup r.(?) p.(Glu29dup)
-?/. - c.78A>G r.(?) p.(Glu26=)
-?/. - c.78A>G r.(?) p.(Glu26=)
-?/. - c.103_108dup r.(?) p.(Ala35_Ala36dup)
-?/. - c.116A>G r.(?) p.(Asp39Gly)
?/. - c.124G>C r.(?) p.(Val42Leu)
-?/. - c.129C>A r.(?) p.(Val43=)
-?/. - c.171C>T r.(?) p.(Ser57=)
-/. - c.231C>G r.(?) p.(Ala77=)
-?/. - c.231C>G r.(?) p.(Ala77=)
-?/. - c.281C>T r.(?) p.(Pro94Leu)
+?/. - c.299C>A r.(?) p.(Ser100*)
-/. - c.318C>T r.(?) p.(Ser106=)
-?/. 1 c.323A>G r.(?) p.(Lys108Arg)
+/. - c.324+4066_10381+3639delinsCACTT r.? p.?
?/. - c.334C>G r.(?) p.(Pro112Ala)
-?/. - c.346C>T r.(?) p.(His116Tyr)
-?/. - c.435G>A r.(?) p.(Arg145=)
-?/. - c.435G>A r.(?) p.(Arg145=)
-/. - c.453+7C>A r.(=) p.(=)
-/. - c.454-14dup r.(=) p.(=)
+/. - c.567del r.(?) p.(Ser190LeufsTer7)
-?/. - c.594A>C r.(?) p.(Gln198His)
-?/. - c.604C>G r.(?) p.(Gln202Glu)
-?/. - c.604C>G r.(?) p.(Gln202Glu)
?/. - c.620A>T r.(?) p.(Asn207Ile)
-/. - c.649+8C>G r.(=) p.(=)
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