Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566800_137566803del , CM000685.2:g.137566800_137566803del | GRCh38 |
| NC_000023.10:g.136648959_136648962del , CM000685.1:g.136648959_136648962del | GRCh37 |
| NC_000023.9:g.136476625_136476628del | NCBI36 |
| NG_008115.1:g.5614_5617del | |
| NG_008115.2:g.5674_5677del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.109_112del MANE Select | NP_003404.1:p.Leu37IlefsTer21 |
| ENST00000287538.10:c.109_112del MANE Select | ENSP00000287538.5:p.Leu37IlefsTer21 |
| NM_001330661.1:c.109_112del | NP_001317590.1:p.Leu37IlefsTer21 |
| NM_003413.3:c.109_112del | NP_003404.1:p.Leu37IlefsTer21 |
| ENST00000287538.9:c.109_112del | ENSP00000287538.5:p.Leu37IlefsTer21 |
| ENST00000370606.3:c.109_112del | ENSP00000359638.3:p.Leu37IlefsTer21 |