Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022729del , CM000663.2:g.17022729del | GRCh38 |
| NC_000001.10:g.17349224del , CM000663.1:g.17349224del | GRCh37 |
| NC_000001.9:g.17221811del | NCBI36 |
| NG_012340.1:g.36443del , LRG_316:g.36443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.474del | ENSP00000481376.2:p.Tyr159IlefsTer4 | |
| ENST00000491274.6:c.603del | ENSP00000480482.2:p.Tyr202IlefsTer4 | |
| ENST00000375499.8:c.645del MANE Select | ENSP00000364649.3:p.Tyr216IlefsTer4 | |
| ENST00000375499.7:c.645del | ENSP00000364649.3:p.Tyr216IlefsTer4 | |
| ENST00000475049.5:n.70del | ||
| ENST00000485092.5:n.309del | ||
| ENST00000485515.5:n.579del | ||
| NM_003000.2:c.645del , LRG_316t1:c.645del | NP_002991.2:p.Tyr216IlefsTer4 | |
| NM_003000.3:c.645del MANE Select | NP_002991.2:p.Tyr216IlefsTer4 |