Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126814260_126823445del , CM000667.2:g.126814260_126823445del | GRCh38 |
| NC_000005.9:g.126149952_126159137del , CM000667.1:g.126149952_126159137del | GRCh37 |
| NC_000005.8:g.126177851_126187036del | NCBI36 |
| NG_008360.2:g.42120_51305del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001198557.1:c.309+2362_861+560del | |
| NM_001198557.2:c.309+2362_861+560del | |
| NM_005573.3:c.939+2362_1491+560del | |
| NM_005573.4:c.939+2362_1491+560del | |
| NR_134488.1:n.1826-910_2455+560del | |
| ENST00000261366.10:c.939+2362_1491+560del | |
| ENST00000261366.9:c.939+2362_1491+560del | |
| ENST00000460265.5:c.940-910_*579+560del | |
| ENST00000504788.5:n.672+2362_1224+560del | |
| XR_948250.1:n.1304-910_1933+560del |