Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226669_5226672dup , CM000673.2:g.5226669_5226672dup | GRCh38 |
| NC_000011.9:g.5247899_5247902dup , CM000673.1:g.5247899_5247902dup | GRCh37 |
| NC_000011.8:g.5204475_5204478dup | NCBI36 |
| NG_000007.3:g.70945_70948dup | |
| NG_059281.1:g.5401_5404dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.221_224dup | ENSP00000494175.1:p.Leu76TrpfsTer17 | |
| ENST00000335295.4:c.221_224dup MANE Select | ENSP00000333994.3:p.Leu76TrpfsTer17 | |
| ENST00000380315.2:c.221_224dup | ENSP00000369671.2:p.Leu76TrpfsTer17 | |
| ENST00000475226.1:n.153_156dup | ||
| ENST00000485743.1:n.272_275dup | ||
| ENST00000633227.1:c.*37_*40dup | ENSP00000488004.1:n.*37_*40dup | |
| NM_000518.4:c.221_224dup | NP_000509.1:p.Leu76TrpfsTer17 | |
| NM_000518.5:c.221_224dup MANE Select | NP_000509.1:p.Leu76TrpfsTer17 |