ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427605_48427606del , CM000677.2:g.48427605_48427606del | GRCh38 |
| NC_000015.9:g.48719802_48719803del , CM000677.1:g.48719802_48719803del | GRCh37 |
| NC_000015.8:g.46507094_46507095del | NCBI36 |
| NG_008805.2:g.223185_223186del , LRG_778:g.223185_223186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7229_7230del | ENSP00000453958.2:p.Ser2410CysfsTer? | |
| ENST00000674301.2:c.*680_*681del | ENSP00000501333.2:n.*680_*681del | |
| ENST00000682170.1:n.1348_1349del | ||
| ENST00000682767.1:n.464_465del | ||
| ENST00000316623.10:c.7167_7168del MANE Select | ENSP00000325527.5:p.Cys2390SerfsTer15 | |
| ENST00000674301.1:c.2333_2334del | ENSP00000501333.1:n.2333_2334del | |
| ENST00000316623.9:c.7167_7168del | ENSP00000325527.5:p.Cys2390SerfsTer15 | |
| ENST00000559133.5:c.2536_2537del | ||
| NM_000138.4:c.7167_7168del , LRG_778t1:c.7167_7168del | NP_000129.3:p.Cys2390SerfsTer15 | |
| NM_000138.5:c.7167_7168del MANE Select | NP_000129.3:p.Cys2390SerfsTer15 |