Linked Data
dbSNP Id:
rs11407706
gnomAD v3:
3-29167587-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
3-29167587-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29167606_29167607insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.2:g.29167606_29167607insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000003.11:g.29209097_29209098insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.1:g.29209097_29209098insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000003.10:g.29184101_29184102insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635992.1:c.*409-15350_*409-15349insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000489994.1:n.*409-15350_*409-15349insTTTTTTTTTTTTTTTTT... | |
| ENST00000636582.1:n.353-15350_353-15349insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000636680.2:c.283-15350_283-15349insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000490271.2:n.283-15350_283-15349insTTTTTTTTTTTTTTTTTTT... | |
| ENST00000636900.1:n.239-15350_239-15349insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000637842.1:c.149-15350_149-15349insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000489718.1:n.149-15350_149-15349insTTTTTTTTTTTTTTTTTTT... |