Linked Data
COSMIC:
COSM1328444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754051_67754075del , CM000666.2:g.67754051_67754075del | GRCh38 |
| NC_000004.11:g.68619769_68619793del , CM000666.1:g.68619769_68619793del | GRCh37 |
| NC_000004.10:g.68302364_68302388del | NCBI36 |
| NG_009293.1:g.7014_7038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.263_287del MANE Select | ENSP00000226413.5:p.Leu88HisfsTer25 | |
| ENST00000226413.4:c.263_287del | ENSP00000226413.4:p.Leu88HisfsTer25 | |
| ENST00000420975.2:c.263_287del | ENSP00000397561.2:p.Leu88HisfsTer25 | |
| NM_000406.2:c.263_287del | NP_000397.1:p.Leu88HisfsTer25 | |
| NM_001012763.1:c.263_287del | NP_001012781.1:p.Leu88HisfsTer25 | |
| NM_000406.3:c.263_287del MANE Select | NP_000397.1:p.Leu88HisfsTer25 | |
| NM_001012763.2:c.263_287del | NP_001012781.1:p.Leu88HisfsTer25 |