Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022693del , CM000663.2:g.17022693del | GRCh38 |
| NC_000001.10:g.17349188del , CM000663.1:g.17349188del | GRCh37 |
| NC_000001.9:g.17221775del | NCBI36 |
| NG_012340.1:g.36478del , LRG_316:g.36478del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.509del | ENSP00000481376.2:p.Thr170LysfsTer21 | |
| ENST00000491274.6:c.638del | ENSP00000480482.2:p.Thr213LysfsTer21 | |
| ENST00000375499.8:c.680del MANE Select | ENSP00000364649.3:p.Thr227LysfsTer21 | |
| ENST00000375499.7:c.680del | ENSP00000364649.3:p.Thr227LysfsTer21 | |
| ENST00000475049.5:n.105del | ||
| ENST00000485092.5:n.344del | ||
| ENST00000485515.5:n.614del | ||
| NM_003000.2:c.680del , LRG_316t1:c.680del | NP_002991.2:p.Thr227LysfsTer21 | |
| NM_003000.3:c.680del MANE Select | NP_002991.2:p.Thr227LysfsTer21 |