Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978200_149978296dup , CM000667.2:g.149978200_149978296dup | GRCh38 |
| NC_000005.9:g.149357763_149357859dup , CM000667.1:g.149357763_149357859dup | GRCh37 |
| NC_000005.8:g.149337956_149338052dup | NCBI36 |
| NG_007147.2:g.19318_19414dup , LRG_684:g.19318_19414dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.780_876dup | ||
| ENST00000286298.5:c.548_644dup MANE Select | ENSP00000286298.4:p.Cys216TrpfsTer3 | |
| ENST00000286298.4:c.548_644dup | ENSP00000286298.4:p.Cys216TrpfsTer3 | |
| ENST00000503336.1:c.221_317dup | ENSP00000426053.1:p.Cys107TrpfsTer3 | |
| NM_000112.3:c.548_644dup , LRG_684t1:c.548_644dup | NP_000103.2:p.Cys216TrpfsTer3 | |
| XM_017009191.2:c.548_644dup | XP_016864680.1:p.Cys216TrpfsTer3 | |
| NM_000112.4:c.548_644dup MANE Select | NP_000103.2:p.Cys216TrpfsTer3 |