Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59210492dup , CM000679.2:g.59210492dup | GRCh38 |
| NC_000017.10:g.57287853dup , CM000679.1:g.57287853dup | GRCh37 |
| NC_000017.9:g.54642635dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018149.7:c.441dup MANE Select | NP_060619.4:p.Val148SerfsTer11 |
| ENST00000300917.10:c.441dup MANE Select | ENSP00000300917.4:p.Val148SerfsTer11 |
| NM_018149.6:c.441dup | NP_060619.4:p.Val148SerfsTer11 |
| ENST00000300917.9:c.441dup | ENSP00000300917.4:p.Val148SerfsTer11 |
| ENST00000543872.6:c.441dup | ENSP00000438748.2:p.Val148SerfsTer11 |
| ENST00000577660.1:c.136-4313dup | ENSP00000464167.1:n.136-4313dup |
| ENST00000578922.1:c.441dup | ENSP00000462119.1:p.Val148SerfsTer11 |
| ENST00000580498.5:n.240+231dup |