Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966005del , CM000685.2:g.154966005del | GRCh38 |
| NC_000023.10:g.154194280del , CM000685.1:g.154194280del | GRCh37 |
| NC_000023.9:g.153847474del | NCBI36 |
| NG_011403.1:g.61720del | |
| NG_011403.2:g.61720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1409del MANE Select | ENSP00000353393.4:p.Pro470LeufsTer12 | |
| ENST00000647125.1:c.*1285del | ENSP00000496062.1:n.*1285del | |
| ENST00000360256.8:c.1409del | ENSP00000353393.4:p.Pro470LeufsTer12 | |
| ENST00000483822.2:n.229del | ||
| NM_000132.3:c.1409del | NP_000123.1:p.Pro470LeufsTer12 | |
| XM_011531126.1:c.1304del | XP_011529428.1:p.Pro435LeufsTer12 | |
| NM_000132.4:c.1409del MANE Select | NP_000123.1:p.Pro470LeufsTer12 |