Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66988500del , CM000669.2:g.66988500del | GRCh38 |
| NC_000007.13:g.66453487del , CM000669.1:g.66453487del | GRCh37 |
| NC_000007.12:g.66090922del | NCBI36 |
| NG_007277.1:g.12103del , LRG_104:g.12103del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016038.2:c.625del , LRG_104t1:c.625del | |
| NM_016038.3:c.625del | |
| NM_016038.4:c.625del | |
| ENST00000246868.6:c.625del | |
| ENST00000246868.7:c.625del | |
| ENST00000414306.5:c.*356del | |
| ENST00000414306.6:c.*356del | |
| ENST00000617799.1:c.625del | |
| ENST00000697860.1:n.592del | |
| ENST00000697861.1:c.424del | |
| ENST00000697862.1:c.*66del | |
| ENST00000697863.1:c.568del | |
| ENST00000697864.1:n.1769del | |
| ENST00000697865.1:c.568del | |
| ENST00000697866.1:c.307del | |
| ENST00000697867.1:c.603del | |
| ENST00000697868.1:c.*389del | |
| ENST00000697897.1:c.625del |