Linked Data
COSMIC:
COSM6203589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528249_7528250insAACGTGA , CM000681.2:g.7528249_7528250insAACGTGA | GRCh38 |
| NC_000019.9:g.7593135_7593136insAACGTGA , CM000681.1:g.7593135_7593136insAACGTGA | GRCh37 |
| NC_000019.8:g.7499135_7499136insAACGTGA | NCBI36 |
| NG_015806.1:g.10640_10641insAACGTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.869_870insAACGTGA MANE Select | ENSP00000264079.5:p.Phe290LeufsTer3 | |
| ENST00000264079.10:c.869_870insAACGTGA | ENSP00000264079.5:p.Phe290LeufsTer3 | |
| ENST00000394321.9:n.1184_1185insAACGTGA | ||
| NM_020533.2:c.869_870insAACGTGA | NP_065394.1:p.Phe290LeufsTer3 | |
| NM_020533.3:c.869_870insAACGTGA MANE Select | NP_065394.1:p.Phe290LeufsTer3 |