Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824679_127826283del , CM000671.2:g.127824679_127826283del | GRCh38 |
| NC_000009.11:g.130586958_130588562del , CM000671.1:g.130586958_130588562del | GRCh37 |
| NC_000009.10:g.129626779_129628383del | NCBI36 |
| NG_009551.1:g.33488_35092del , LRG_589:g.33488_35092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-24+229_445+123del | ||
| ENST00000373203.9:c.523+229_991+123del | ||
| ENST00000344849.4:c.523+229_991+123del | ||
| ENST00000373203.8:c.523+229_991+123del | ||
| ENST00000480266.5:c.-24+229_445+123del | ||
| NM_000118.3:c.523+229_991+123del , LRG_589t1:c.523+229_991+123del | ||
| NM_001114753.2:c.523+229_991+123del , LRG_589t2:c.523+229_991+123del | ||
| NM_001278138.1:c.-24+229_445+123del | ||
| NM_001114753.3:c.523+229_991+123del | ||
| NM_001278138.2:c.-24+229_445+123del |