Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425044_101425453del , CM000671.2:g.101425044_101425453del | GRCh38 |
| NC_000009.11:g.104187326_104187735del , CM000671.1:g.104187326_104187735del | GRCh37 |
| NC_000009.10:g.103227147_103227556del | NCBI36 |
| NG_012387.1:g.15330_15739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.799+2_800del | ||
| ENST00000648064.1:c.799+2_800del | ||
| ENST00000648758.1:c.799+2_800del | ||
| ENST00000649902.1:c.799+2_800del | ||
| ENST00000374855.8:c.799+2_800del | ||
| ENST00000616752.1:c.799+2_800del | ||
| NM_000035.3:c.799+2_800del | ||
| NM_000035.4:c.799+2_800del |