Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63606397dup , CM000679.2:g.63606397dup | GRCh38 |
| NC_000017.10:g.61683757dup , CM000679.1:g.61683757dup | GRCh37 |
| NC_000017.9:g.59037489dup | NCBI36 |
| NG_016979.1:g.10527dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682060.1:n.234dup | ||
| ENST00000684587.1:c.469dup | ENSP00000507435.1:p.His157ProfsTer8 | |
| ENST00000690765.1:c.*298dup | ENSP00000510085.1:n.*298dup | |
| ENST00000258975.7:c.472dup MANE Select | ENSP00000258975.6:p.His158ProfsTer8 | |
| ENST00000258975.6:c.472dup | ENSP00000258975.6:p.His158ProfsTer8 | |
| ENST00000581120.1:n.674dup | ||
| NM_016360.3:c.472dup | NP_057444.2:p.His158ProfsTer8 | |
| NM_016360.4:c.472dup MANE Select | NP_057444.2:p.His158ProfsTer8 |