Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48508678del , CM000677.2:g.48508678del | GRCh38 |
| NC_000015.9:g.48800875del , CM000677.1:g.48800875del | GRCh37 |
| NC_000015.8:g.46588167del | NCBI36 |
| NG_008805.2:g.142111del , LRG_778:g.142111del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1741del | ENSP00000453958.2:p.Met581CysfsTer? | |
| ENST00000674301.2:c.1741del | ENSP00000501333.2:p.Met581CysfsTer? | |
| ENST00000684448.1:n.415del | ||
| ENST00000316623.10:c.1741del MANE Select | ENSP00000325527.5:p.Met581CysfsTer? | |
| ENST00000316623.9:c.1741del | ENSP00000325527.5:p.Met581CysfsTer? | |
| ENST00000537463.6:c.636+29033del | ENSP00000440294.2:n.636+29033del | |
| NM_000138.4:c.1741del , LRG_778t1:c.1741del | NP_000129.3:p.Met581CysfsTer? | |
| NM_000138.5:c.1741del MANE Select | NP_000129.3:p.Met581CysfsTer? |