Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024013del , CM000663.2:g.17024013del | GRCh38 |
| NC_000001.10:g.17350508del , CM000663.1:g.17350508del | GRCh37 |
| NC_000001.9:g.17223095del | NCBI36 |
| NG_012340.1:g.35159del , LRG_316:g.35159del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.603del MANE Select | NP_002991.2:p.Trp201Ter |
| ENST00000375499.8:c.603del MANE Select | ENSP00000364649.3:p.Trp201Ter |
| NM_003000.2:c.603del , LRG_316t1:c.603del | NP_002991.2:p.Trp201Ter |
| ENST00000375499.7:c.603del | ENSP00000364649.3:p.Trp201Ter |
| ENST00000463045.3:c.432del | ENSP00000481376.2:p.Trp144Ter |
| ENST00000485515.5:n.537del | |
| ENST00000491274.5:c.561del | ENSP00000480482.1:p.Trp187Ter |
| ENST00000491274.6:c.561del | ENSP00000480482.2:p.Trp187Ter |