Linked Data
COSMIC:
COSM5023039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339853del , CM000667.2:g.146339853del | GRCh38 |
| NC_000005.9:g.145719416del , CM000667.1:g.145719416del | GRCh37 |
| NC_000005.8:g.145699609del | NCBI36 |
| NG_011885.1:g.5830del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.426del MANE Select | ENSP00000495718.1:p.Gln143ArgfsTer19 | |
| ENST00000230732.4:c.426del | ENSP00000230732.4:p.Gln143ArgfsTer19 | |
| NM_002700.2:c.426del | NP_002691.1:p.Gln143ArgfsTer19 | |
| NM_002700.3:c.426del MANE Select | NP_002691.1:p.Gln143ArgfsTer19 |