Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644950dup , CM000682.2:g.10644950dup | GRCh38 |
| NC_000020.10:g.10625598dup , CM000682.1:g.10625598dup | GRCh37 |
| NC_000020.9:g.10573598dup | NCBI36 |
| NG_007496.1:g.34097dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2257dup MANE Select | ENSP00000254958.4:p.Cys753LeufsTer3 | |
| ENST00000617965.2:n.2846dup | ||
| ENST00000254958.9:c.2257dup | ENSP00000254958.4:p.Cys753LeufsTer3 | |
| ENST00000423891.6:n.2123dup | ||
| ENST00000488480.2:n.654dup | ||
| NM_000214.2:c.2257dup | NP_000205.1:p.Cys753LeufsTer3 | |
| NM_000214.3:c.2257dup MANE Select | NP_000205.1:p.Cys753LeufsTer3 |