Transcript #00007720

Transcript name transcript variant 1
Gene name FANCA (Fanconi anemia, complementation group A)
Chromosome 16
Transcript - NCBI ID NM_000135.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000126.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1856 entries on 19 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
+/+ _1_43_ c.-4617_*580del - r.? p.? FA
+/+ _1_3i c.-4157_284-1315del - r.? p.? FA
+/+ _1_37i c.-3552_3765+261del - r.? p.? FA
+/. 1 c.-42-?_792+?del - r.(?) p.0? FA
+/. 1 c.-42-?_1083+?del - r.(?) p.(fs*) FA
?/. 1 c.-42-?_2014+?del - r.(?) p.? FA
?/. 1 c.-42-?_2014+?del - r.(?) p.? FA
+/. _1_1i c.(?_-1)_79+?del - r.0? p.0? FA
+/+ _1_2i c.(?_-42)_(189+1_190-1)del - r.(?) p.? FA
?/. _1_3i c.(?_-1)_283+?del - r.0? p.0? FA
+/. _1_3i c.(?_-1)_283+?del - r.0? p.0? FA
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
?/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
+/+ _1_5i c.(?_-1)_522+?del - r.0? p.0? FA
+/+ _1_5i c.(?_-42)_523-828del - r.? p.? FA
+/+ _1_5i c.(?_-42)_523-818del - r.? p.? FA
+/+ _1_5i c.(?_-42)_523-818del - r.? p.? FA
+/+ _1_5i c.(?_-42)_523-663del - r.? p.? FA
+/+ _1_5i c.(?_-42)_(522+1_523-1)del - r.(?) p.? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/+ _1_6i c.(?_-1)_596+?del - r.0? p.0? FA
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA
+/+ _1_6i c.(?_-42)_597-800del - r.? p.? FA
+/+ _1_7i c.(?_-42)_(597-1_709+1)del - r.(?) p.? FA
+/+ _1_7i c.(?_-42)_(597-1_709+1)del - r.(?) p.? FA
?/. _1_7i c.(?_-1)_709+?del - r.0? p.0? FA
+/+ _1_7i c.(?_-42)_(709+1_710-1)del - r.(?) p.? FA
+/+ _1_7i c.(?_-42)_(709+1_710-1)del - r.(?) p.? FA
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA
?/. _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA
?/. _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA
+/+ _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del - r.(?) p.? FA
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del - r.(?) p.? FA
?/. _1_14i c.(?_-1)_1359+?del - r.0? p.0? FA
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del - r.(?) p.? FA
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del - r.(?) p.? FA
+/. _1_20i c.(?_-1)_1826+?del - r.0? p.0? FA
+/. _1_20i c.(?_-1)_1826+?del - r.0? p.0? FA
+/. _1_21i c.(?_-1)_1900+?del - r.0? p.0? FA
?/. _1_29i c.(?_-1)_2852+?del - r.0? p.0? FA
+/. _1_29i c.(?_-1)_2852+?del - r.0? p.0? FA
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA
+/+ _1_30i c.(?_-42)_2982-1786del - r.? p.? FA
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA
+/+ _1_31i c.(?_-42)_3066+281del - r.? p.? FA
+/+ _1_31i c.(?_-42)_3066+281del - r.? p.? FA
?/. _1_36i c.(?_-1)_3626+?del - r.0? p.0? FA
+/+ _1_36i c.(?_-42)_(3626+1_3627-1)del - r.(?) p.? FA
+/+ _1_37i c.(?_-1)_3765+?del - r.0? p.0? FA
?/. _1_38i c.(?_-1)_3828+?del - r.0? p.0? FA
+/+ _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA
+/. _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
+/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »