ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718086_12718119del , CM000674.2:g.12718086_12718119del | GRCh38 |
| NC_000012.11:g.12871020_12871053del , CM000674.1:g.12871020_12871053del | GRCh37 |
| NC_000012.10:g.12762287_12762320del | NCBI36 |
| NG_016341.1:g.5719_5752del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.247_280del | ENSP00000507272.1:p.Ser83ProfsTer25 | |
| ENST00000682620.1:n.1631-739_1631-706del | ||
| ENST00000684771.1:n.585-739_585-706del | ||
| ENST00000228872.9:c.247_280del MANE Select | ENSP00000228872.4:p.Ser83ProfsTer25 | |
| ENST00000228872.8:c.247_280del | ENSP00000228872.4:p.Ser83ProfsTer25 | |
| ENST00000396340.1:c.247_280del | ENSP00000379629.1:p.Ser83ProfsTer25 | |
| ENST00000442489.1:c.193+33_193+66del | ENSP00000407597.1:n.193+33_193+66del | |
| ENST00000477087.1:n.155-739_155-706del | ||
| NM_004064.4:c.247_280del | NP_004055.1:p.Ser83ProfsTer25 | |
| NM_004064.5:c.247_280del MANE Select | NP_004055.1:p.Ser83ProfsTer25 |