ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114676391dup , CM000674.2:g.114676391dup | GRCh38 |
| NC_000012.11:g.115114196dup , CM000674.1:g.115114196dup | GRCh37 |
| NC_000012.10:g.113598579dup | NCBI36 |
| NG_008315.1:g.12774dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.961dup MANE Select | ENSP00000257567.2:p.Ser321LysfsTer2 | |
| ENST00000257566.7:c.1021dup | ENSP00000257566.3:p.Ser341LysfsTer2 | |
| ENST00000349155.6:c.961dup | ENSP00000257567.2:p.Ser321LysfsTer2 | |
| ENST00000613550.1:c.961dup | ENSP00000480048.1:p.Ser321LysfsTer2 | |
| NM_005996.3:c.961dup | NP_005987.3:p.Ser321LysfsTer2 | |
| NM_016569.3:c.1021dup | NP_057653.3:p.Ser341LysfsTer2 | |
| NM_005996.4:c.961dup MANE Select | NP_005987.3:p.Ser321LysfsTer2 | |
| NM_016569.4:c.1021dup | NP_057653.3:p.Ser341LysfsTer2 |