Linked Data
ClinVar Variation Id:
370263
dbSNP Id:
rs757458607
ExAC:
17:78082353 AC / A
gnomAD v2:
17-78082353-AC-A
gnomAD v4:
17-80108554-AC-A
MyVariant Identifiers:
chr17:g.78082355del (hg19)
chr17:g.78082354del (hg19)
chr17:g.80108556del (hg38)
chr17:g.80108555del (hg38)
ERepo:
CA8815181/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80108556del , CM000679.2:g.80108556del | GRCh38 |
| NC_000017.10:g.78082355del , CM000679.1:g.78082355del | GRCh37 |
| NC_000017.9:g.75696950del | NCBI36 |
| NG_009822.1:g.12001del , LRG_673:g.12001del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1143del | ENSP00000460543.2:p.Ala382LeufsTer10 | |
| ENST00000572080.2:c.1143del | ENSP00000459972.2:p.Ala382LeufsTer10 | |
| ENST00000577106.6:c.1143del | ENSP00000458306.2:p.Ala382LeufsTer10 | |
| ENST00000302262.8:c.1143del MANE Select | ENSP00000305692.3:p.Ala382LeufsTer10 | |
| ENST00000302262.7:c.1143del | ENSP00000305692.3:p.Ala382LeufsTer10 | |
| ENST00000390015.7:c.1143del | ENSP00000374665.3:p.Ala382LeufsTer10 | |
| NM_000152.3:c.1143del , LRG_673t1:c.1143del | NP_000143.2:p.Ala382LeufsTer10 | |
| NM_001079803.1:c.1143del | NP_001073271.1:p.Ala382LeufsTer10 | |
| NM_001079804.1:c.1143del | NP_001073272.1:p.Ala382LeufsTer10 | |
| XM_005257193.1:c.1143del | XP_005257250.1:p.Ala382LeufsTer10 | |
| XM_005257194.3:c.1143del | XP_005257251.1:p.Ala382LeufsTer10 | |
| NM_000152.4:c.1143del | NP_000143.2:p.Ala382LeufsTer10 | |
| NM_001079803.2:c.1143del | NP_001073271.1:p.Ala382LeufsTer10 | |
| NM_001079804.2:c.1143del | NP_001073272.1:p.Ala382LeufsTer10 | |
| XM_005257193.2:c.1143del | XP_005257250.1:p.Ala382LeufsTer10 | |
| XM_005257194.4:c.1143del | XP_005257251.1:p.Ala382LeufsTer10 | |
| NM_000152.5:c.1143del MANE Select | NP_000143.2:p.Ala382LeufsTer10 | |
| NM_001079803.3:c.1143del | NP_001073271.1:p.Ala382LeufsTer10 | |
| NM_001079804.3:c.1143del | NP_001073272.1:p.Ala382LeufsTer10 |