Linked Data
COSMIC:
COSM4696758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866627_40866630del , CM000679.2:g.40866627_40866630del | GRCh38 |
| NC_000017.10:g.39022879_39022882del , CM000679.1:g.39022879_39022882del | GRCh37 |
| NC_000017.9:g.36276405_36276408del | NCBI36 |
| NG_008077.1:g.5581_5584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.557_560del MANE Select | ENSP00000251643.4:p.Leu186ArgfsTer23 | |
| ENST00000647902.1:c.449_452del | ENSP00000497770.1:p.Leu150ArgfsTer23 | |
| ENST00000251643.4:c.557_560del | ENSP00000251643.4:p.Leu186ArgfsTer23 | |
| NM_000223.3:c.557_560del | NP_000214.1:p.Leu186ArgfsTer23 | |
| XR_934754.1:n.1500+15767_1500+15770del | ||
| XR_934754.2:n.2008+15767_2008+15770del | ||
| NM_000223.4:c.557_560del MANE Select | NP_000214.1:p.Leu186ArgfsTer23 |