Linked Data
ClinVar Variation Id:
304382
dbSNP Id:
rs568803808
gnomAD v4:
11-32388008-AC-A
COSMIC:
COSN20108128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388009del , CM000673.2:g.32388009del | GRCh38 |
| NC_000011.9:g.32409555del , CM000673.1:g.32409555del | GRCh37 |
| NC_000011.8:g.32366131del | NCBI36 |
| NG_009272.1:g.52533del , LRG_525:g.52533del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.*1049del | ENSP00000331327.5:n.*1049del | |
| ENST00000379077.9:c.*1802del | ENSP00000368368.5:n.*1802del | |
| ENST00000379079.8:c.*1049del | ENSP00000368370.2:n.*1049del | |
| ENST00000452863.10:c.*1049del MANE Select | ENSP00000415516.5:n.*1049del | |
| ENST00000651819.1:n.1543del | ||
| ENST00000332351.7:c.*1049del | ENSP00000331327.3:n.*1049del | |
| ENST00000379077.7:c.*1802del | ENSP00000368368.3:n.*1802del | |
| ENST00000379079.6:c.*1049del | ENSP00000368370.2:n.*1049del | |
| ENST00000452863.7:c.2543del | ENSP00000415516.3:n.2543del | |
| ENST00000530998.5:c.*1049del | ENSP00000435307.1:n.*1049del | |
| NM_000378.4:c.*1049del | NP_000369.3:n.*1049del | |
| NM_001198551.1:c.*1049del , LRG_525t2:c.*1049del | NP_001185480.1:n.*1049del | |
| NM_001198552.1:c.*1049del | NP_001185481.1:n.*1049del | |
| NM_024424.3:c.*1049del | NP_077742.2:n.*1049del | |
| NM_024426.4:c.*1049del | NP_077744.3:n.*1049del | |
| NM_000378.5:c.*1049del | NP_000369.4:n.*1049del | |
| NM_024424.4:c.*1049del | NP_077742.3:n.*1049del | |
| NM_024426.5:c.*1049del | NP_077744.4:n.*1049del | |
| NM_001367854.1:c.*1049del | NP_001354783.1:n.*1049del | |
| NR_160306.1:n.2950del | ||
| NM_000378.6:c.*1049del | NP_000369.4:n.*1049del | |
| NM_001198552.2:c.*1049del | NP_001185481.1:n.*1049del | |
| NM_024424.5:c.*1049del | NP_077742.3:n.*1049del | |
| NM_024426.6:c.*1049del MANE Select | NP_077744.4:n.*1049del |