Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966659del , CM000685.2:g.154966659del | GRCh38 |
| NC_000023.10:g.154194934del , CM000685.1:g.154194934del | GRCh37 |
| NC_000023.9:g.153848128del | NCBI36 |
| NG_011403.1:g.61065del | |
| NG_011403.2:g.61065del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1038del MANE Select | ENSP00000353393.4:p.Asp346GlufsTer11 | |
| ENST00000647125.1:c.*914del | ENSP00000496062.1:n.*914del | |
| ENST00000360256.8:c.1038del | ENSP00000353393.4:p.Asp346GlufsTer11 | |
| NM_000132.3:c.1038del | NP_000123.1:p.Asp346GlufsTer11 | |
| XM_011531126.1:c.933del | XP_011529428.1:p.Asp311GlufsTer11 | |
| NM_000132.4:c.1038del MANE Select | NP_000123.1:p.Asp346GlufsTer11 |