Linked Data
COSMIC:
COSM6203429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713502_6713509del , CM000681.2:g.6713502_6713509del | GRCh38 |
| NC_000019.9:g.6713513_6713520del , CM000681.1:g.6713513_6713520del | GRCh37 |
| NC_000019.8:g.6664513_6664520del | NCBI36 |
| NG_009557.1:g.12143_12150del , LRG_27:g.12143_12150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.651_658del | ENSP00000512083.1:p.Phe218ArgfsTer25 | |
| ENST00000695692.1:n.98_105del | ||
| ENST00000245907.11:c.774_781del MANE Select | ENSP00000245907.4:p.Phe259ArgfsTer25 | |
| ENST00000245907.10:c.774_781del | ENSP00000245907.4:p.Phe259ArgfsTer25 | |
| ENST00000595577.1:n.278_285del | ||
| ENST00000597442.5:n.24_31del | ||
| NM_000064.3:c.774_781del | NP_000055.2:p.Phe259ArgfsTer25 | |
| NM_000064.4:c.774_781del MANE Select | NP_000055.2:p.Phe259ArgfsTer25 |