Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013111_25013113dup , CM000685.2:g.25013111_25013113dup | GRCh38 |
| NC_000023.10:g.25031228_25031230dup , CM000685.1:g.25031228_25031230dup | GRCh37 |
| NC_000023.9:g.24941149_24941151dup | NCBI36 |
| NG_008281.1:g.7844_7846dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.890_892dup MANE Select | ENSP00000368332.4:p.Leu297_His298insLeu | |
| ENST00000379044.4:c.890_892dup | ENSP00000368332.4:p.Leu297_His298insLeu | |
| NM_139058.2:c.890_892dup | NP_620689.1:p.Leu297_His298insLeu | |
| NM_139058.3:c.890_892dup MANE Select | NP_620689.1:p.Leu297_His298insLeu |