Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824681_127830056del , CM000671.2:g.127824681_127830056del | GRCh38 |
| NC_000009.11:g.130586960_130592335del , CM000671.1:g.130586960_130592335del | GRCh37 |
| NC_000009.10:g.129626781_129632156del | NCBI36 |
| NG_009551.1:g.29717_35092del , LRG_589:g.29717_35092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-327-225_445+123del | ||
| ENST00000373203.9:c.220-225_991+123del | ||
| ENST00000344849.4:c.220-225_991+123del | ||
| ENST00000373203.8:c.220-225_991+123del | ||
| ENST00000480266.5:c.-327-225_445+123del | ||
| NM_000118.3:c.220-225_991+123del , LRG_589t1:c.220-225_991+123del | ||
| NM_001114753.2:c.220-225_991+123del , LRG_589t2:c.220-225_991+123del | ||
| NM_001278138.1:c.-327-225_445+123del | ||
| NM_001114753.3:c.220-225_991+123del | ||
| NM_001278138.2:c.-327-225_445+123del |