Linked Data
dbSNP Id:
rs10605417
gnomAD v2:
18-56117300-AT-A
gnomAD v3:
18-58450068-AT-A
gnomAD v4:
18-58450068-AT-A
MyVariant Identifiers:
chr18:g.56117304del (hg19)
chr18:g.56117301del (hg19)
chr18:g.58450072del (hg38)
chr18:g.58450069del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58450084del , CM000680.2:g.58450084del | GRCh38 |
| NC_000018.9:g.56117316del , CM000680.1:g.56117316del | GRCh37 |
| NC_000018.8:g.54268296del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1323del | ||
| NR_170243.1:n.308-407del | ||
| NR_170244.1:n.307+544del | ||
| NR_170245.1:n.307+544del |