Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225671dup , CM000673.2:g.5225671dup | GRCh38 |
| NC_000011.9:g.5246901dup , CM000673.1:g.5246901dup | GRCh37 |
| NC_000011.8:g.5203477dup | NCBI36 |
| NG_000007.3:g.71948dup | |
| NG_059281.1:g.6404dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.374dup | ENSP00000494175.1:p.Pro126ThrfsTer15 | |
| ENST00000335295.4:c.374dup MANE Select | ENSP00000333994.3:p.Pro126ThrfsTer15 | |
| ENST00000475226.1:n.306dup | ||
| ENST00000633227.1:c.*190dup | ENSP00000488004.1:n.*190dup | |
| NM_000518.4:c.374dup | NP_000509.1:p.Pro126ThrfsTer15 | |
| NM_000518.5:c.374dup MANE Select | NP_000509.1:p.Pro126ThrfsTer15 |