Linked Data
COSMIC:
COSM4518486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584353_41584354delinsTT , CM000679.2:g.41584353_41584354delinsTT | GRCh38 |
| NC_000017.10:g.39740605_39740606delinsTT , CM000679.1:g.39740605_39740606delinsTT | GRCh37 |
| NC_000017.9:g.36994131_36994132delinsTT | NCBI36 |
| NG_008624.1:g.7542_7543delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.668_669delinsAA MANE Select | ENSP00000167586.6:p.Arg223Lys | |
| ENST00000167586.6:c.668_669delinsAA | ENSP00000167586.6:p.Arg223Lys | |
| ENST00000476662.1:n.118_119delinsAA | ||
| NM_000526.4:c.668_669delinsAA | NP_000517.2:p.Arg223Lys | |
| NM_000526.5:c.668_669delinsAA MANE Select | NP_000517.3:p.Arg223Lys |