Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717848del , CM000674.2:g.12717848del | GRCh38 |
| NC_000012.11:g.12870782del , CM000674.1:g.12870782del | GRCh37 |
| NC_000012.10:g.12762049del | NCBI36 |
| NG_016341.1:g.5481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.9del | ENSP00000507272.1:p.Asn3LysfsTer? | |
| ENST00000682620.1:n.1631-977del | ||
| ENST00000684771.1:n.585-977del | ||
| ENST00000228872.9:c.9del MANE Select | ENSP00000228872.4:p.Asn3LysfsTer? | |
| ENST00000228872.8:c.9del | ENSP00000228872.4:p.Asn3LysfsTer? | |
| ENST00000396340.1:c.9del | ENSP00000379629.1:p.Asn3LysfsTer? | |
| ENST00000477087.1:n.155-977del | ||
| NM_004064.4:c.9del | NP_004055.1:p.Asn3LysfsTer? | |
| NM_004064.5:c.9del MANE Select | NP_004055.1:p.Asn3LysfsTer? |