Linked Data
COSMIC:
COSM4729215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122775_72122776dup , CM000679.2:g.72122775_72122776dup | GRCh38 |
| NC_000017.10:g.70118916_70118917dup , CM000679.1:g.70118916_70118917dup | GRCh37 |
| NC_000017.9:g.67630511_67630512dup | NCBI36 |
| NG_012490.1:g.6756_6757dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.488_489dup MANE Select | ENSP00000245479.2:p.Gln164CysfsTer20 | |
| ENST00000245479.2:c.488_489dup | ENSP00000245479.2:p.Gln164CysfsTer20 | |
| NM_000346.3:c.488_489dup | NP_000337.1:p.Gln164CysfsTer20 | |
| NM_000346.4:c.488_489dup MANE Select | NP_000337.1:p.Gln164CysfsTer20 |