Full length BRCA1 | Yes | Breast, ovary, testis, thymus, various other |
1
|
With exon 1a (NM_007294*) | Yes | Breast, ovary, testis, thymus | 57, 58 |
With exon 1b (NM_007295*) | Yes | Placenta |
57
|
Δ(2–10) (NM_007297*) | Yes | Breast, lymphocytes |
49
|
Δ(5) | Yes | Breast, ovary, lymphocytes | 1, 48, 59, 60 |
Δ(5q,6) | Yes | Breast, lymphocytes |
60
|
Δ(9,10) (NM_007302*) | Yes | Breast, ovary, lymphocytes | 1, 12, 46, 48, 61 |
Δ(9,10,11q) (NM_007305*) | Yes | Breast, ovary, lymphocytes | 12, 46, 49, 61 |
Δ(9,10,11) (NM_007298*) | Yes | Breast, lymphocytes | 1, 49 |
Δ(11q) (NM_007304*) | Yes | Breast, ovary, lymphocytes | 12, 46, 48, 49, 61 |
Δ(11) (NM_007303*) | Yes | Ovary, thyroid | 47, 62 |
Δ(14–17) (NM_007299*) | Yes | Breast, lymphocytes |
49
|
Δ(14–18) (NM_007300*) | Yes | Breast, lymphocytes |
49
|
| | | |
Δ(3) | No | Breast, lymphocytes |
60
|
Δ(3,5q) | No | Lymphocytes |
60
|
Δ(5q) | No | Breast, ovary, lymphocytes | 59, 60 |
Δ(6,7) | No | Lymphocytes |
60
|
Δ(9) | No | Lymphocytes |
60
|
Δ(15–17) (NM_007301*) | No | Breast, lymphocytes |
49
|
| | | |
Usage of leaky splice sites | | | |
+3 nt for 5′ of exon 8 | Yes | Breast |
1
|
+3 nt for 5′ of exon 14 | Yes | Breast |
1
|
−3 nt from 5′ of exon 8 | Yes | Breast, lymphocytes |
60
|
−3 nt from 5′ of exon 12† | Yes | Breast |
47
|
−6 nt from 3′ of exon 1a (NM_007296*) | Yes | Kidney, lung, other |
58
|