Linked Data
ClinVar Variation Id:
199824
dbSNP Id:
rs794728093
gnomAD v2:
18-29104664-AGCTTGAAGGGAT-A
gnomAD v3:
18-31524701-AGCTTGAAGGGAT-A
gnomAD v4:
18-31524701-AGCTTGAAGGGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524703_31524714del , CM000680.2:g.31524703_31524714del | GRCh38 |
| NC_000018.9:g.29104666_29104677del , CM000680.1:g.29104666_29104677del | GRCh37 |
| NC_000018.8:g.27358664_27358675del | NCBI36 |
| NG_007072.3:g.31462_31473del , LRG_397:g.31462_31473del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682087.2:n.660_671del | ||
| ENST00000683614.2:n.660_671del | ||
| ENST00000682087.1:c.660_671del | ||
| ENST00000683614.1:c.660_671del | ||
| ENST00000261590.13:c.829_840del | ||
| ENST00000261590.12:c.829_840del | ||
| NM_001943.3:c.829_840del , LRG_397t1:c.829_840del | ||
| NM_001943.4:c.829_840del | ||
| XM_024451095.1:c.295_306del | ||
| NM_001943.5:c.829_840del |