Linked Data
ClinVar Variation Id:
189163
dbSNP Id:
rs786204741
gnomAD v2:
17-19555944-AG-A
gnomAD v3:
17-19652631-AG-A
gnomAD v4:
17-19652631-AG-A
MyVariant Identifiers:
chr17:g.19555946del (hg19)
chr17:g.19555945del (hg19)
chr17:g.19652633del (hg38)
chr17:g.19652632del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19652633del , CM000679.2:g.19652633del | GRCh38 |
| NC_000017.10:g.19555946del , CM000679.1:g.19555946del | GRCh37 |
| NC_000017.9:g.19496538del | NCBI36 |
| NG_007095.2:g.8883del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.471+1del | ||
| ENST00000395575.7:c.471+1del | ||
| ENST00000446398.7:n.481+1del | ||
| ENST00000467473.6:n.595del | ||
| ENST00000472059.6:c.471+1del | ||
| ENST00000581518.6:c.471+1del | ||
| ENST00000582991.6:c.471+1del | ||
| ENST00000671878.1:c.471+1del | ||
| ENST00000672357.1:c.471+1del | ||
| ENST00000672465.1:c.471+1del | ||
| ENST00000672487.1:c.471+1del | ||
| ENST00000672564.1:n.692+1del | ||
| ENST00000672567.1:c.362+1del | ||
| ENST00000672709.1:c.325+1del | ||
| ENST00000673136.1:c.471+1del | ||
| ENST00000176643.10:c.471+1del | ||
| ENST00000339618.8:c.471+1del | ||
| ENST00000395575.6:c.471+1del | ||
| ENST00000446398.6:c.471+1del | ||
| ENST00000467473.5:n.629del | ||
| ENST00000472059.5:c.471+1del | ||
| ENST00000578614.1:c.*74+1del | ||
| ENST00000579403.1:n.518del | ||
| ENST00000579855.5:c.471+1del | ||
| ENST00000581518.5:c.471+1del | ||
| ENST00000582991.5:c.471+1del | ||
| ENST00000584332.6:c.375+1del | ||
| ENST00000626500.2:c.471+1del | ||
| ENST00000630662.2:c.-511+1del | ||
| ENST00000631291.2:c.471+1del | ||
| NM_000382.2:c.471+1del | ||
| NM_001031806.1:c.471+1del | ||
| XM_011523732.1:c.471+1del | ||
| XM_011523733.1:c.471+1del | ||
| XM_011523733.2:c.471+1del | ||
| XM_017024355.1:c.471+1del | ||
| XM_017024356.2:c.471+1del | ||
| XM_017024357.1:c.471+1del | ||
| XM_017024358.2:c.471+1del | ||
| XM_024450651.1:c.-218+1del | ||
| XM_024450652.1:c.-218+1del | ||
| NM_000382.3:c.471+1del | ||
| NM_001031806.2:c.471+1del | ||
| NM_001369136.1:c.471+1del | ||
| NM_001369137.1:c.471+1del | ||
| NM_001369138.1:c.471+1del | ||
| NM_001369139.1:c.471+1del | ||
| NM_001369146.1:c.471+1del | ||
| NM_001369148.1:c.-218+1del | ||
| NM_001369137.2:c.471+1del | ||
| NM_001369138.2:c.471+1del | ||
| NM_001369146.2:c.471+1del | ||
| NM_001369148.2:c.-218+1del |