Linked Data
dbSNP Id:
rs1910893966
gnomAD v3:
17-4631499-ATGGGAAGAGGGTGGGACT-A
gnomAD v4:
17-4631499-ATGGGAAGAGGGTGGGACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631505_4631522del , CM000679.2:g.4631505_4631522del | GRCh38 |
| NC_000017.10:g.4534800_4534817del , CM000679.1:g.4534800_4534817del | GRCh37 |
| NC_000017.9:g.4481549_4481566del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*83_*100del MANE Select | ENSP00000293761.3:n.*83_*100del | |
| ENST00000570836.6:c.*83_*100del | ENSP00000458832.1:n.*83_*100del | |
| ENST00000293761.7:c.*83_*100del | ENSP00000293761.3:n.*83_*100del | |
| ENST00000570836.5:c.*83_*100del | ENSP00000458832.1:n.*83_*100del | |
| ENST00000574640.1:c.*83_*100del | ENSP00000460483.1:n.*83_*100del | |
| NM_001140.3:c.*83_*100del | NP_001131.3:n.*83_*100del | |
| NM_001140.4:c.*83_*100del | NP_001131.3:n.*83_*100del | |
| NM_001140.5:c.*83_*100del MANE Select | NP_001131.3:n.*83_*100del |