Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102952039dup , CM000673.2:g.102952039dup | GRCh38 |
| NC_000011.9:g.102822768dup , CM000673.1:g.102822768dup | GRCh37 |
| NC_000011.8:g.102327978dup | NCBI36 |
| NG_021404.1:g.8696dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002427.4:c.772dup MANE Select | NP_002418.1:p.Asp258GlyfsTer14 |
| ENST00000260302.8:c.772dup MANE Select | ENSP00000260302.3:p.Asp258GlyfsTer14 |
| NM_002427.3:c.772dup | NP_002418.1:p.Asp258GlyfsTer14 |
| ENST00000260302.7:c.772dup | ENSP00000260302.3:p.Asp258GlyfsTer14 |
| ENST00000340273.4:c.772dup | ENSP00000339672.4:p.Asp258GlyfsTer14 |
| ENST00000615555.4:c.772dup | ENSP00000482883.1:p.Asp258GlyfsTer14 |