Transcript #00003478 (NM_007294.3, BRCA1 gene)

Transcript name transcript variant 1
Gene name BRCA1 (breast cancer 1, early onset)
Chromosome 17
Transcript - NCBI ID NM_007294.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009225.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

33671 entries on 337 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
+/. 4i_7i c.(134+1_135-1)_(441+1_442_1)del r.? p.? -
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? -
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? -
?/. - c.*31G>A r.(?) p.? -
?/. _1_12i c.-232_ (4185+1_4186-1){2} r.0? p.0? -
+/. _1_17i c.-232_(5074+1_5075-1){0} r.? p.? -
+/. _1_21i c.-232_(5332+1_5333-1){0} r.? p.? -
+/. _1_2i c.-232_(80+1_81-1){0} r.? p.? -
+/. _1_2i c.-232_(80+1_81-1){0} r.? p.? -
?/. - c.? r.? p.? -
?/. - c.? r.? p.? -
?/. - c.? r.? p.? -
?/. - c.? r.(?) p.? -
?/. - c.? r.(?) p.? -
?/. - c.? r.(?) p.? -
?/. - c.? r.(?) p.? -
+/. - c.? r.? p.? -
-/. - c.? r.(?) p.? -
?/. - c.? r.? p.? -
+/. 20i_21i c.? r.? p.? -
+/. 8i_13i c.? r.? p.? -
+/. - c.? r.? p.? -
+/. 2i_5i c.? r.? p.? -
+/. - c.? r.? p.? -
?/. - c.? r.? p.? -
+/. (17_18) c.? r.(?) p.(fs*) -
+/. _1_3i c.-232_(134+1_135-1){0} r.0? p.0? -
+/. _1_20i c.-232_5278-637{0} r.0? p.0? -
+/. _1_2i c.-232_80+3829{0} r.? p.? -
+/. _1_2i c.-232_80+3829{0} r.? p.? -
+/. _1_2i c.-232_80+2226{0} r.0? p.0? -
+/. _1_2i c.-232_80+2333{0} r.0? p.0? -
+/. _1_3i c.-232_134+3913{0} r.0? p.0? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
+/+ _1_2i c.-232_80+468{0} r.0? p.0? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
+/. _1_2i c.-232_80+468{0} r.? p.? -
?/. _1_2i c.-232_80+3351{2) r.? p.? -
?/. _1_2i c.-232_80+3351{2) r.? p.? -
?/. _1_2i c.-232_80+3351{2) r.? p.? -
-/- _1 c.-2617_-2616del r.(?) p.(=) -
-/- _1 c.-2614T>C r.(?) p.(=) -
-/- _1 c.-2569G>T r.(?) p.(=) -
-/- _1 c.-2502T>C r.(?) p.(=) -
-/- _1 c.-2293C>G r.(?) p.(=) -
-/- _1 c.-2266G>A r.(?) p.(=) -
-/- _1 c.-2261T>C r.(?) p.(=) -
+/. _1_3i c.-232_(134+1_135-1){0} r.? p.? -
-/- _1 c.-2030T>C r.(?) p.(=) -
-/- _1 c.-1959C>T r.(?) p.(=) -
-/- _1 c.-1648T>C r.(?) p.(=) -
-/- _1 c.-1619G>A r.(?) p.(=) -
-/- _1 c.-1465G>A r.(?) p.(=) -
-/- _1 c.-1457G>C r.(?) p.(=) -
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? -
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? -
+/. _1_9i c.-232_(593+1_594-1){0} r.0? p.0? -
-/- _1 c.-1109C>T r.(?) p.(=) -
-/- _1 c.-1074C>G r.(=) p.(=) -
?/. _1 c.-1044C>T r.(=) p.(=) -
?/. _1 c.-1044C>T r.(=) p.(=) -
?/. _1 c.-948G>A r.(=) p.(=) -
?/. _1 c.-946G>A r.(=) p.(=) -
?/. _1 c.-939C>T r.(=) p.(=) -
?/. _1 c.-932T>C r.(=) p.(=) -
-/- _1 c.-848A>G r.(?) p.(=) -
-/. _1 c.-730C>T r.(=) p.(=) -
-/. _1 c.-730C>T r.(=) p.(=) -
-/- _1 c.-728A>G r.(?) p.(=) -
-/. _1 c.-676T>A r.(=) p.(=) -
-/. _1 c.-676T>A r.(=) p.(=) -
?/. _1 c.-593T>C r.(=) p.(=) -
-/. _1 c.-589A>G r.(=) p.(=) -
-/. _1 c.-585C>A r.(=) p.(=) -
-/. _1 c.-585C>A r.(=) p.(=) -
?/. _1 c.-577A>G r.(=) p.(=) -
?/. _1 c.-516A>C r.(=) p.(=) -
-/. _1 c.-497G>A r.(=) p.(=) -
?/. _1 c.-408T>A r.= p.= -
?/. _1 c.-408T>A r.(=) p.(=) -
?/. _1 c.-380G>A r.= p.= -
?/. _1 c.-380G>A r.(=) p.(=) -
?/. _1 c.-378C>A r.= p.= -
?/. _1 c.-378C>A r.(=) p.(=) -
-?/. _1 c.-371G>T r.(=) p.(=) -
?/. _1 c.-366C>T r.(=) p.(=) -
+?/. 1 c.-315del r.(=) p.(=) -
?/. _1 c.-315del r.(=) p.(=) -
+?/. 1 c.-287C>T r.(=) p.(=) -
?/. _1 c.-287C>T r.(=) p.(=) -
+?/. _1_1i c.-283_-20+188|gom r.0? p.0? -
+?/. _1_1i c.-283_-20+188|gom r.0? p.0? -
?/. 1 c.-273G>A r.= p.= -
-/- _1 c.-273G>A r.(?) p.(=) -
-/- _1 c.-273G>A r.(=) p.(=) -
?/. 1 c.-264T>G r.= p.= -
?/. _1 c.-264T>G r.(=) p.(=) -
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