Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824710_127824895del , CM000671.2:g.127824710_127824895del | GRCh38 |
| NC_000009.11:g.130586989_130587174del , CM000671.1:g.130586989_130587174del | GRCh37 |
| NC_000009.10:g.129626810_129626995del | NCBI36 |
| NG_009551.1:g.34874_35059del , LRG_589:g.34874_35059del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.350_445+90del | ||
| ENST00000373203.9:c.896_991+90del | ||
| ENST00000344849.4:c.896_991+90del | ||
| ENST00000373203.8:c.896_991+90del | ||
| ENST00000480266.5:c.350_445+90del | ||
| NM_000118.3:c.896_991+90del , LRG_589t1:c.896_991+90del | ||
| NM_001114753.2:c.896_991+90del , LRG_589t2:c.896_991+90del | ||
| NM_001278138.1:c.350_445+90del | ||
| NM_001114753.3:c.896_991+90del | ||
| NM_001278138.2:c.350_445+90del |