Linked Data
ClinVar Variation Id:
1288509
ClinVar RCV Id:
RCV001707484
dbSNP Id:
rs56228407
ExAC:
17:16221271 A / AC
gnomAD v2:
17-16221271-A-AC
gnomAD v3:
17-16317957-A-AC
gnomAD v4:
17-16317957-A-AC
COSMIC:
COSN17154303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16317961dup , CM000679.2:g.16317961dup | GRCh38 |
| NC_000017.10:g.16221275dup , CM000679.1:g.16221275dup | GRCh37 |
| NC_000017.9:g.16162000dup | NCBI36 |
| NG_032651.1:g.105767dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225609.10:c.660+53dup MANE Select | ENSP00000225609.5:n.660+53dup | |
| ENST00000225609.9:c.660+53dup | ENSP00000225609.5:n.660+53dup | |
| ENST00000395844.8:c.628+53dup | ENSP00000379185.3:n.628+53dup | |
| ENST00000477745.5:n.658+53dup | ||
| ENST00000488375.2:n.518+53dup | ||
| ENST00000581006.5:c.426+17983dup | ENSP00000462432.1:n.426+17983dup | |
| ENST00000596678.2:c.202+53dup | ENSP00000470064.2:n.202+53dup | |
| ENST00000613719.1:n.987+273dup | ||
| NM_004278.3:c.660+53dup | NP_004269.1:n.660+53dup | |
| XR_243571.2:n.1658+53dup | ||
| XM_017025349.1:c.*824+53dup | XP_016880838.1:n.*824+53dup | |
| XM_017025350.1:c.*824+53dup | XP_016880839.1:n.*824+53dup | |
| XM_017025352.1:c.660+53dup | XP_016880841.1:n.660+53dup | |
| XM_017025353.1:c.660+53dup | XP_016880842.1:n.660+53dup | |
| XM_017025354.1:c.628+53dup | XP_016880843.1:n.628+53dup | |
| XM_017025355.1:c.628+53dup | XP_016880844.1:n.628+53dup | |
| XM_017025356.1:c.*1137+53dup | XP_016880845.1:n.*1137+53dup | |
| NM_004278.4:c.660+53dup MANE Select | NP_004269.1:n.660+53dup |