ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48489905_48489920del , CM000677.2:g.48489905_48489920del | GRCh38 |
| NC_000015.9:g.48782102_48782117del , CM000677.1:g.48782102_48782117del | GRCh37 |
| NC_000015.8:g.46569394_46569409del | NCBI36 |
| NG_008805.2:g.160874_160889del , LRG_778:g.160874_160889del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3018_3033del | ENSP00000453958.2:p.Glu1006AspfsTer24 | |
| ENST00000674301.2:c.3018_3033del | ENSP00000501333.2:p.Glu1006AspfsTer24 | |
| ENST00000684448.1:n.1692_1707del | ||
| ENST00000316623.10:c.3018_3033del MANE Select | ENSP00000325527.5:p.Glu1006AspfsTer24 | |
| ENST00000316623.9:c.3018_3033del | ENSP00000325527.5:p.Glu1006AspfsTer24 | |
| ENST00000537463.6:c.637-15265_637-15250del | ENSP00000440294.2:n.637-15265_637-15250del | |
| NM_000138.4:c.3018_3033del , LRG_778t1:c.3018_3033del | NP_000129.3:p.Glu1006AspfsTer24 | |
| NM_000138.5:c.3018_3033del MANE Select | NP_000129.3:p.Glu1006AspfsTer24 |