Linked Data
dbSNP Id:
rs10605417
gnomAD v3:
18-58450068-A-ATTTTTTT
gnomAD v4:
18-58450068-A-ATTTTTTT
MyVariant Identifiers:
chr18:g.56117300_56117301insTTTTTTT (hg19)
chr18:g.58450068_58450069insTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58450078_58450084dup , CM000680.2:g.58450078_58450084dup | GRCh38 |
| NC_000018.9:g.56117310_56117316dup , CM000680.1:g.56117310_56117316dup | GRCh37 |
| NC_000018.8:g.54268290_54268296dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1317_1323dup | ||
| NR_170243.1:n.308-413_308-407dup | ||
| NR_170244.1:n.307+538_307+544dup | ||
| NR_170245.1:n.307+538_307+544dup |