Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471358del , CM000677.2:g.40471358del | GRCh38 |
| NC_000015.9:g.40763557del , CM000677.1:g.40763557del | GRCh37 |
| NC_000015.8:g.38550849del | NCBI36 |
| NG_017074.1:g.5398del , LRG_600:g.5398del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.145del MANE Select | NP_569735.1:p.Val49Ter |
| ENST00000306243.7:c.145del MANE Select | ENSP00000307297.6:p.Val49Ter |
| NM_130468.3:c.145del , LRG_600t1:c.145del | NP_569735.1:p.Val49Ter |
| ENST00000306243.6:c.145del | ENSP00000307297.5:p.Val49Ter |
| ENST00000559991.1:c.145del | ENSP00000453882.1:p.Val49Ter |