Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265219dup , CM000664.2:g.96265219dup | GRCh38 |
| NC_000002.11:g.96930957dup , CM000664.1:g.96930957dup | GRCh37 |
| NC_000002.10:g.96294684dup | NCBI36 |
| NG_027695.1:g.5795dup , LRG_528:g.5795dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.163dup MANE Select | ENSP00000258439.3:p.His55ProfsTer? | |
| ENST00000258439.7:c.163dup | ENSP00000258439.2:p.His55ProfsTer? | |
| ENST00000432959.1:c.163dup | ENSP00000416660.1:p.His55ProfsTer? | |
| NM_001193304.2:c.163dup | NP_001180233.1:p.His55ProfsTer? | |
| NM_017849.3:c.163dup , LRG_528t1:c.163dup | NP_060319.1:p.His55ProfsTer? | |
| NM_001193304.3:c.163dup | NP_001180233.1:p.His55ProfsTer? | |
| NM_017849.4:c.163dup MANE Select | NP_060319.1:p.His55ProfsTer? |