Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570016del , CM000664.2:g.149570016del | GRCh38 |
| NC_000002.11:g.150426530del , CM000664.1:g.150426530del | GRCh37 |
| NC_000002.10:g.150134776del | NCBI36 |
| NG_009189.1:g.22802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.850del MANE Select | ENSP00000301920.5:p.Thr284HisfsTer7 | |
| ENST00000303319.9:c.850del | ENSP00000301920.5:p.Thr284HisfsTer7 | |
| ENST00000422782.2:c.952del | ENSP00000408331.2:p.Thr318HisfsTer7 | |
| ENST00000428879.5:c.850del | ENSP00000389060.1:p.Thr284HisfsTer7 | |
| NM_015702.2:c.850del | NP_056517.1:p.Thr284HisfsTer7 | |
| NM_015702.3:c.850del MANE Select | NP_056517.1:p.Thr284HisfsTer7 |