Linked Data
ClinVar Variation Id:
3148407
ClinVar RCV Id:
RCV004440313
dbSNP Id:
rs2048273367
gnomAD v3:
17-58703278-G-GT
gnomAD v4:
17-58703278-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703280dup , CM000679.2:g.58703280dup | GRCh38 |
| NC_000017.10:g.56780641dup , CM000679.1:g.56780641dup | GRCh37 |
| NC_000017.9:g.54135640dup | NCBI36 |
| NG_023199.1:g.15679dup , LRG_314:g.15679dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.305dup | ENSP00000464056.2:p.Leu102PhefsTer? | |
| ENST00000697677.1:n.1737dup | ||
| ENST00000697678.1:n.558dup | ||
| ENST00000697679.1:n.1730dup | ||
| ENST00000697680.1:c.*1520dup | ENSP00000513392.1:n.*1520dup | |
| ENST00000697681.1:c.*1672dup | ENSP00000513393.1:n.*1672dup | |
| ENST00000697683.1:c.*1520dup | ENSP00000513395.1:n.*1520dup | |
| ENST00000697684.1:n.716dup | ||
| ENST00000697685.1:c.*1353dup | ENSP00000513396.1:n.*1353dup | |
| ENST00000697686.1:c.305dup | ENSP00000513397.1:p.Leu102PhefsTer? | |
| ENST00000697687.1:n.535dup | ||
| ENST00000697688.1:n.702dup | ||
| ENST00000697689.1:c.*1192dup | ENSP00000513398.1:n.*1192dup | |
| ENST00000697690.1:c.656dup | ENSP00000513399.1:p.Leu219PhefsTer? | |
| ENST00000697691.1:c.*628dup | ENSP00000513400.1:n.*628dup | |
| ENST00000697692.1:c.*668dup | ENSP00000513401.1:n.*668dup | |
| ENST00000697694.1:c.305dup | ENSP00000513402.1:p.Leu102PhefsTer? | |
| ENST00000697695.1:n.1263dup | ||
| ENST00000337432.9:c.656dup MANE Select | ENSP00000336701.4:p.Leu219PhefsTer? | |
| ENST00000337432.8:c.656dup | ENSP00000336701.4:p.Leu219PhefsTer? | |
| ENST00000413590.5:c.294dup | ||
| ENST00000425173.5:c.452dup | ENSP00000407282.1:p.Leu151PhefsTer22 | |
| ENST00000461271.5:c.305dup | ENSP00000464056.1:p.Leu102PhefsTer? | |
| ENST00000475762.5:c.*1359dup | ENSP00000432421.1:n.*1359dup | |
| ENST00000482007.5:c.*84dup | ENSP00000433332.1:n.*84dup | |
| ENST00000487525.5:c.*84dup | ENSP00000431637.1:n.*84dup | |
| ENST00000487921.5:n.568dup | ||
| ENST00000583539.5:c.656dup | ENSP00000463121.1:p.Leu219PhefsTer? | |
| ENST00000584617.5:c.378dup | ||
| NM_058216.2:c.656dup | NP_478123.1:p.Leu219PhefsTer? | |
| NR_103872.1:n.560dup | ||
| XM_006722001.2:c.656dup | XP_006722064.1:p.Leu219PhefsTer? | |
| XM_006722002.2:c.656dup | XP_006722065.1:p.Leu219PhefsTer? | |
| XM_006722004.2:c.305dup | XP_006722067.1:p.Leu102PhefsTer? | |
| XM_006722005.2:c.305dup | XP_006722068.1:p.Leu102PhefsTer? | |
| XM_011525092.1:c.305dup | XP_011523394.1:p.Leu102PhefsTer? | |
| XM_011525093.1:c.305dup | XP_011523395.1:p.Leu102PhefsTer? | |
| XM_011525094.1:c.305dup | XP_011523396.1:p.Leu102PhefsTer? | |
| XR_934513.1:n.729dup | ||
| XR_934514.1:n.729dup | ||
| XM_006722001.4:c.656dup | XP_006722064.1:p.Leu219PhefsTer? | |
| XM_006722002.4:c.656dup | XP_006722065.1:p.Leu219PhefsTer? | |
| XM_006722004.3:c.305dup | XP_006722067.1:p.Leu102PhefsTer? | |
| XM_006722005.3:c.305dup | XP_006722068.1:p.Leu102PhefsTer? | |
| XM_011525092.2:c.305dup | XP_011523394.1:p.Leu102PhefsTer? | |
| XM_011525093.2:c.305dup | XP_011523395.1:p.Leu102PhefsTer? | |
| XM_011525094.2:c.305dup | XP_011523396.1:p.Leu102PhefsTer? | |
| XM_017024914.1:c.305dup | XP_016880403.1:p.Leu102PhefsTer? | |
| XM_017024915.1:c.305dup | XP_016880404.1:p.Leu102PhefsTer? | |
| XM_017024916.1:c.305dup | XP_016880405.1:p.Leu102PhefsTer? | |
| XM_017024917.1:c.305dup | XP_016880406.1:p.Leu102PhefsTer? | |
| XM_017024918.2:c.305dup | XP_016880407.1:p.Leu102PhefsTer? | |
| XM_017024919.1:c.305dup | XP_016880408.1:p.Leu102PhefsTer? | |
| XR_934513.3:n.1160dup | ||
| XR_934514.3:n.1160dup | ||
| NM_058216.3:c.656dup MANE Select | NP_478123.1:p.Leu219PhefsTer? | |
| NR_103872.2:n.531dup |