Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763731_57763735dup , CM000674.2:g.57763731_57763735dup | GRCh38 |
| NC_000012.11:g.58157514_58157518dup , CM000674.1:g.58157514_58157518dup | GRCh37 |
| NC_000012.10:g.56443781_56443785dup | NCBI36 |
| NG_007076.1:g.8460_8464dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1371_1375dup | ENSP00000518840.1:p.Arg459GlnfsTer? | |
| ENST00000713545.1:c.*295_*299dup | ENSP00000518841.1:n.*295_*299dup | |
| ENST00000228606.9:c.1290_1294dup MANE Select | ENSP00000228606.4:p.Arg432GlnfsTer? | |
| ENST00000228606.8:c.1290_1294dup | ENSP00000228606.4:p.Arg432GlnfsTer? | |
| ENST00000547344.5:n.1429_1433dup | ||
| NM_000785.3:c.1290_1294dup | NP_000776.1:p.Arg432GlnfsTer? | |
| NM_000785.4:c.1290_1294dup MANE Select | NP_000776.1:p.Arg432GlnfsTer? |