Linked Data
COSMIC:
COSM6234813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002556_21002557del , CM000664.2:g.21002556_21002557del | GRCh38 |
| NC_000002.11:g.21225428_21225429del , CM000664.1:g.21225428_21225429del | GRCh37 |
| NC_000002.10:g.21078933_21078934del | NCBI36 |
| NG_011793.1:g.46521_46522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12869_12870del MANE Select | ENSP00000233242.1:p.Leu4290GlnfsTer8 | |
| ENST00000616098.4:c.12869_12870del | ENSP00000477990.1:p.Leu4290GlnfsTer8 | |
| NM_000384.2:c.12869_12870del | NP_000375.2:p.Leu4290GlnfsTer8 | |
| XM_011532809.1:c.5870-3280_5870-3279del | XP_011531111.1:n.5870-3280_5870-3279del | |
| NM_000384.3:c.12869_12870del MANE Select | NP_000375.3:p.Leu4290GlnfsTer8 |