Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018936del , CM000663.2:g.17018936del | GRCh38 |
| NC_000001.10:g.17345431del , CM000663.1:g.17345431del | GRCh37 |
| NC_000001.9:g.17218018del | NCBI36 |
| NG_012340.1:g.40236del , LRG_316:g.40236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.618del | ENSP00000481376.2:p.Ile206MetfsTer7 | |
| ENST00000491274.6:c.747del | ENSP00000480482.2:p.Ile249MetfsTer7 | |
| ENST00000375499.8:c.789del MANE Select | ENSP00000364649.3:p.Ile263MetfsTer7 | |
| ENST00000375499.7:c.789del | ENSP00000364649.3:p.Ile263MetfsTer7 | |
| ENST00000475049.5:n.214del | ||
| ENST00000485092.5:n.453del | ||
| NM_003000.2:c.789del , LRG_316t1:c.789del | NP_002991.2:p.Ile263MetfsTer7 | |
| NM_003000.3:c.789del MANE Select | NP_002991.2:p.Ile263MetfsTer7 |