Linked Data
COSMIC:
COSM1443302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225560_3225561del , CM000668.2:g.3225560_3225561del | GRCh38 |
| NC_000006.11:g.3225794_3225795del , CM000668.1:g.3225794_3225795del | GRCh37 |
| NC_000006.10:g.3170793_3170794del | NCBI36 |
| NG_016715.1:g.7175_7176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.529_530del MANE Select | ENSP00000259818.6:p.Asp177HisfsTer21 | |
| ENST00000680070.1:n.1459_1460del | ||
| ENST00000681707.1:n.1356_1357del | ||
| ENST00000681757.1:n.834_835del | ||
| ENST00000259818.7:c.529_530del | ENSP00000259818.6:p.Asp177HisfsTer21 | |
| ENST00000473006.1:n.646_647del | ||
| NM_178012.4:c.529_530del | NP_821080.1:p.Asp177HisfsTer21 | |
| XM_011514571.1:c.313_314del | XP_011512873.1:p.Asp105HisfsTer21 | |
| NM_178012.5:c.529_530del MANE Select | NP_821080.1:p.Asp177HisfsTer21 |