Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146480_10149909del , CM000665.2:g.10146480_10149909del | GRCh38 |
| NC_000003.11:g.10188164_10191593del , CM000665.1:g.10188164_10191593del | GRCh37 |
| NC_000003.10:g.10163164_10166593del | NCBI36 |
| NG_008212.3:g.9846_13275del , LRG_322:g.9846_13275del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*18-34_*263del | ||
| ENST00000696143.1:c.600-3307_722del | ||
| ENST00000696153.1:c.341-34_697del | ||
| ENST00000256474.3:c.341-34_586del | ||
| ENST00000256474.2:c.341-34_586del | ||
| ENST00000345392.2:c.341-3307_463del | ||
| ENST00000477538.1:n.477-34_722del | ||
| NM_000551.3:c.341-34_586del , LRG_322t1:c.341-34_586del | ||
| NM_198156.2:c.341-3307_463del | ||
| NM_001354723.1:c.*18-3307_*140del | ||
| NM_000551.4:c.341-34_586del | ||
| NM_001354723.2:c.*18-3307_*140del | ||
| NM_198156.3:c.341-3307_463del |