Linked Data
COSMIC:
COSM4612643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124057_72124058dup , CM000679.2:g.72124057_72124058dup | GRCh38 |
| NC_000017.10:g.70120198_70120199dup , CM000679.1:g.70120198_70120199dup | GRCh37 |
| NC_000017.9:g.67631793_67631794dup | NCBI36 |
| NG_012490.1:g.8038_8039dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1200_1201dup MANE Select | ENSP00000245479.2:p.Gln401ArgfsTer3 | |
| ENST00000245479.2:c.1200_1201dup | ENSP00000245479.2:p.Gln401ArgfsTer3 | |
| NM_000346.3:c.1200_1201dup | NP_000337.1:p.Gln401ArgfsTer3 | |
| NM_000346.4:c.1200_1201dup MANE Select | NP_000337.1:p.Gln401ArgfsTer3 |