Linked Data
COSMIC:
COSM5517723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875910dup , CM000681.2:g.48875910dup | GRCh38 |
| NC_000019.9:g.49379167dup , CM000681.1:g.49379167dup | GRCh37 |
| NC_000019.8:g.54070979dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*817dup | ENSP00000469239.2:n.*817dup | |
| ENST00000704026.1:c.1677dup | ENSP00000515636.1:p.Thr560HisfsTer? | |
| ENST00000704027.1:c.2010dup | ENSP00000515637.1:p.Thr671HisfsTer? | |
| ENST00000200453.6:c.1962dup MANE Select | ENSP00000200453.4:p.Thr655HisfsTer? | |
| ENST00000200453.5:c.1962dup | ENSP00000200453.4:p.Thr655HisfsTer? | |
| ENST00000600406.1:c.1593dup | ||
| NM_014330.3:c.1962dup | NP_055145.3:p.Thr655HisfsTer? | |
| NM_014330.5:c.1962dup MANE Select | NP_055145.3:p.Thr655HisfsTer? |