Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029478dup , CM000663.2:g.94029478dup | GRCh38 |
| NC_000001.10:g.94495034dup , CM000663.1:g.94495034dup | GRCh37 |
| NC_000001.9:g.94267622dup | NCBI36 |
| NG_009073.1:g.96675dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4509dup MANE Select | ENSP00000359245.3:p.Glu1504ArgfsTer? | |
| ENST00000370225.3:c.4509dup | ENSP00000359245.3:p.Glu1504ArgfsTer? | |
| ENST00000536513.5:c.885dup | ENSP00000439707.2:p.Glu296ArgfsTer? | |
| NM_000350.2:c.4509dup | NP_000341.2:p.Glu1504ArgfsTer? | |
| NM_000350.3:c.4509dup MANE Select | NP_000341.2:p.Glu1504ArgfsTer? |