Linked Data
COSMIC:
COSM5121689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670082_119670083del , CM000672.2:g.119670082_119670083del | GRCh38 |
| NC_000010.10:g.121429594_121429595del , CM000672.1:g.121429594_121429595del | GRCh37 |
| NC_000010.9:g.121419584_121419585del | NCBI36 |
| NG_016125.1:g.23713_23714del , LRG_742:g.23713_23714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.412_413del MANE Select | ENSP00000358081.4:p.Leu138AlafsTer11 | |
| ENST00000369085.7:c.412_413del | ENSP00000358081.3:p.Leu138AlafsTer11 | |
| ENST00000450186.1:c.238_239del | ENSP00000410036.1:p.Leu80AlafsTer11 | |
| NM_004281.3:c.412_413del , LRG_742t1:c.412_413del | NP_004272.2:p.Leu138AlafsTer11 | |
| XM_005270287.1:c.412_413del | XP_005270344.1:p.Leu138AlafsTer11 | |
| XM_005270287.2:c.412_413del | XP_005270344.1:p.Leu138AlafsTer11 | |
| NM_004281.4:c.412_413del MANE Select | NP_004272.2:p.Leu138AlafsTer11 |