Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177378dup , CM000678.2:g.177378dup | GRCh38 |
| NC_000016.9:g.227377dup , CM000678.1:g.227377dup | GRCh37 |
| NC_000016.8:g.167377dup | NCBI36 |
| NG_000006.1:g.38241dup | |
| NG_059186.1:g.5728dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.396dup MANE Select | NP_000549.1:p.Val133CysfsTer? |
| ENST00000320868.9:c.396dup MANE Select | ENSP00000322421.5:p.Val133CysfsTer? |
| NM_000558.4:c.396dup | NP_000549.1:p.Val133CysfsTer? |
| ENST00000397797.1:c.300dup | ENSP00000380899.1:p.Val101CysfsTer? |
| ENST00000472694.1:n.532dup |