Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261796_24261805dup , CM000676.2:g.24261796_24261805dup | GRCh38 |
| NC_000014.8:g.24731002_24731011dup , CM000676.1:g.24731002_24731011dup | GRCh37 |
| NC_000014.7:g.23800842_23800851dup | NCBI36 |
| NG_007150.1:g.6362_6371dup | |
| NG_007150.2:g.6362_6371dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.398_407dup MANE Select | NP_000350.1:p.Tyr136Ter |
| ENST00000206765.11:c.398_407dup MANE Select | ENSP00000206765.6:p.Tyr136Ter |
| NM_000359.2:c.398_407dup | NP_000350.1:p.Tyr136Ter |
| ENST00000206765.10:c.398_407dup | ENSP00000206765.6:p.Tyr136Ter |
| ENST00000544573.5:c.-29+322_-29+331dup | ENSP00000439446.1:n.-29+322_-29+331dup |