Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018731del , CM000663.2:g.17018731del | GRCh38 |
| NC_000001.10:g.17345226del , CM000663.1:g.17345226del | GRCh37 |
| NC_000001.9:g.17217813del | NCBI36 |
| NG_012340.1:g.40449del , LRG_316:g.40449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.*159del | ENSP00000481376.2:n.*159del | |
| ENST00000491274.6:c.*159del | ENSP00000480482.2:n.*159del | |
| ENST00000375499.8:c.*159del MANE Select | ENSP00000364649.3:n.*159del | |
| ENST00000375499.7:c.*159del | ENSP00000364649.3:n.*159del | |
| NM_003000.2:c.*159del , LRG_316t1:c.*159del | NP_002991.2:n.*159del | |
| NM_003000.3:c.*159del MANE Select | NP_002991.2:n.*159del |