Linked Data
COSMIC:
COSM1385632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123621_72123622del , CM000679.2:g.72123621_72123622del | GRCh38 |
| NC_000017.10:g.70119762_70119763del , CM000679.1:g.70119762_70119763del | GRCh37 |
| NC_000017.9:g.67631357_67631358del | NCBI36 |
| NG_012490.1:g.7602_7603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.764_765del MANE Select | ENSP00000245479.2:p.Glu255GlyfsTer? | |
| ENST00000245479.2:c.764_765del | ENSP00000245479.2:p.Glu255GlyfsTer? | |
| NM_000346.3:c.764_765del | NP_000337.1:p.Glu255GlyfsTer? | |
| NM_000346.4:c.764_765del MANE Select | NP_000337.1:p.Glu255GlyfsTer? |