Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226995dup , CM000673.2:g.5226995dup | GRCh38 |
| NC_000011.9:g.5248225dup , CM000673.1:g.5248225dup | GRCh37 |
| NC_000011.8:g.5204801dup | NCBI36 |
| NG_000007.3:g.70621dup | |
| NG_059281.1:g.5077dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.27dup MANE Select | NP_000509.1:p.Ser10ValfsTer14 |
| ENST00000335295.4:c.27dup MANE Select | ENSP00000333994.3:p.Ser10ValfsTer14 |
| NM_000518.4:c.27dup | NP_000509.1:p.Ser10ValfsTer14 |
| ENST00000380315.2:c.27dup | ENSP00000369671.2:p.Ser10ValfsTer14 |
| ENST00000485743.1:n.78dup | |
| ENST00000633227.1:c.27dup | ENSP00000488004.1:p.Ser10ValfsTer14 |
| ENST00000647020.1:c.27dup | ENSP00000494175.1:p.Ser10ValfsTer14 |