Linked Data
COSMIC:
COSM5990089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859726del , CM000668.2:g.31859726del | GRCh38 |
| NC_000006.11:g.31827503del , CM000668.1:g.31827503del | GRCh37 |
| NC_000006.10:g.31935482del | NCBI36 |
| NG_008201.1:g.8207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1241del MANE Select | ENSP00000364782.4:p.Thr414AsnfsTer? | |
| ENST00000677054.1:n.2580del | ||
| ENST00000677512.1:n.1518del | ||
| ENST00000678869.1:n.1829del | ||
| ENST00000375631.4:c.1241del | ENSP00000364782.4:p.Thr414AsnfsTer? | |
| ENST00000480384.1:n.1540del | ||
| ENST00000491768.5:c.*351del | ENSP00000433127.1:n.*351del | |
| ENST00000495807.1:n.2549del | ||
| NM_000434.3:c.1241del | NP_000425.1:p.Thr414AsnfsTer? | |
| NM_000434.4:c.1241del MANE Select | NP_000425.1:p.Thr414AsnfsTer? |