Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024507dup , CM000682.2:g.59024507dup | GRCh38 |
| NC_000020.10:g.57599562dup , CM000682.1:g.57599562dup | GRCh37 |
| NC_000020.9:g.57032957dup | NCBI36 |
| NG_023424.2:g.10254dup , LRG_581:g.10254dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.1080dup MANE Select | NP_110400.1:p.Leu361AlafsTer19 |
| ENST00000217133.2:c.1080dup MANE Select | ENSP00000217133.1:p.Leu361AlafsTer19 |
| NM_030773.3:c.1080dup , LRG_581t1:c.1080dup | NP_110400.1:p.Leu361AlafsTer19 |
| ENST00000217133.1:c.1080dup | ENSP00000217133.1:p.Leu361AlafsTer19 |
| XM_017028085.1:c.1014dup | XP_016883574.1:p.Leu339AlafsTer19 |