Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141848_10146636del , CM000665.2:g.10141848_10146636del | GRCh38 |
| NC_000003.11:g.10183532_10188320del , CM000665.1:g.10183532_10188320del | GRCh37 |
| NC_000003.10:g.10158532_10163320del | NCBI36 |
| NG_008212.3:g.5214_10002del , LRG_322:g.5214_10002del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.1_*140del | ||
| ENST00000696143.1:c.1_600-3151del | ||
| ENST00000696153.1:c.1_463del | ||
| ENST00000256474.3:c.1_463del | ||
| ENST00000256474.2:c.1_463del | ||
| ENST00000345392.2:c.1_341-3151del | ||
| NM_000551.3:c.1_463del , LRG_322t1:c.1_463del | ||
| NM_198156.2:c.1_341-3151del | ||
| NM_001354723.1:c.1_*18-3151del | ||
| NM_000551.4:c.1_463del | ||
| NM_001354723.2:c.1_*18-3151del | ||
| NM_198156.3:c.1_341-3151del |