Linked Data
ClinVar Variation Id:
370632
ClinVar RCV Id:
RCV002436230
dbSNP Id:
rs1057516643
gnomAD v2:
13-52523852-CA-C
gnomAD v4:
13-51949716-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51949717del , CM000675.2:g.51949717del | GRCh38 |
| NC_000013.10:g.52523853del , CM000675.1:g.52523853del | GRCh37 |
| NC_000013.9:g.51421854del | NCBI36 |
| NG_008806.1:g.66778del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*643del | ENSP00000489512.2:n.*643del | |
| ENST00000673864.2:c.*1554del | ENSP00000501045.2:n.*1554del | |
| ENST00000674147.2:c.2244+290del | ENSP00000500964.2:n.2244+290del | |
| ENST00000242839.10:c.2810del MANE Select | ENSP00000242839.5:p.Val937GlyfsTer5 | |
| ENST00000344297.9:c.2244+290del | ENSP00000342559.5:n.2244+290del | |
| ENST00000400366.6:c.2477del | ENSP00000383217.3:p.Val826GlyfsTer5 | |
| ENST00000448424.7:c.2558del | ENSP00000416738.3:p.Val853GlyfsTer5 | |
| ENST00000673772.1:c.2576del | ENSP00000501168.1:p.Val859GlyfsTer5 | |
| ENST00000674147.1:c.1800+290del | ENSP00000500964.1:n.1800+290del | |
| ENST00000242839.8:c.2810del | ENSP00000242839.4:p.Val937GlyfsTer5 | |
| ENST00000344297.8:c.2244+290del | ENSP00000342559.5:n.2244+290del | |
| ENST00000400366.5:c.2477del | ENSP00000383217.3:p.Val826GlyfsTer5 | |
| ENST00000400370.8:c.1520del | ENSP00000383221.3:p.Val507GlyfsTer5 | |
| ENST00000418097.7:c.2810del | ENSP00000393343.2:p.Val937GlyfsTer5 | |
| ENST00000448424.6:c.2576del | ENSP00000416738.2:p.Val859GlyfsTer5 | |
| ENST00000634296.1:c.771del | ||
| ENST00000634308.1:c.2576del | ENSP00000489234.1:p.Val859GlyfsTer5 | |
| ENST00000634620.1:n.3608del | ||
| ENST00000634810.1:n.2155del | ||
| ENST00000634844.1:c.2666del | ENSP00000489398.1:p.Val889GlyfsTer5 | |
| ENST00000635406.1:n.212-3239del | ||
| NM_000053.3:c.2810del | NP_000044.2:p.Val937GlyfsTer5 | |
| NM_001005918.2:c.2244+290del | NP_001005918.1:n.2244+290del | |
| NM_001243182.1:c.2477del | NP_001230111.1:p.Val826GlyfsTer5 | |
| XM_005266423.2:c.2714del | XP_005266480.1:p.Val905GlyfsTer5 | |
| XM_005266424.3:c.2714del | XP_005266481.1:p.Val905GlyfsTer5 | |
| XM_005266427.2:c.2576del | XP_005266484.1:p.Val859GlyfsTer5 | |
| XM_005266428.1:c.2558del | XP_005266485.1:p.Val853GlyfsTer5 | |
| XM_005266430.3:c.2810del | XP_005266487.1:p.Val937GlyfsTer5 | |
| XM_005266431.2:c.2774del | XP_005266488.1:p.Val925GlyfsTer5 | |
| XM_005266432.2:c.2324del | XP_005266489.1:p.Val775GlyfsTer5 | |
| XM_006719837.2:c.2714del | XP_006719900.1:p.Val905GlyfsTer5 | |
| XM_006719838.1:c.626del | XP_006719901.1:p.Val209GlyfsTer5 | |
| XM_006719839.1:c.626del | XP_006719902.1:p.Val209GlyfsTer5 | |
| XM_011535117.1:c.2714del | XP_011533419.1:p.Val905GlyfsTer5 | |
| XM_011535118.1:c.2730+290del | XP_011533420.1:n.2730+290del | |
| XM_011535119.1:c.2810del | XP_011533421.1:p.Val937GlyfsTer5 | |
| XM_011535120.1:c.2396del | XP_011533422.1:p.Val799GlyfsTer5 | |
| XM_011535121.1:c.2730+290del | XP_011533423.1:n.2730+290del | |
| XM_011535122.1:c.1478del | XP_011533424.1:p.Val493GlyfsTer5 | |
| XR_941601.1:n.3029del | ||
| XR_941602.1:n.3029del | ||
| XR_941603.1:n.3029del | ||
| XR_941604.1:n.3029del | ||
| NM_001330578.1:c.2576del | NP_001317507.1:p.Val859GlyfsTer5 | |
| NM_001330579.1:c.2558del | NP_001317508.1:p.Val853GlyfsTer5 | |
| XM_005266424.4:c.2714del | XP_005266481.1:p.Val905GlyfsTer5 | |
| XM_005266430.4:c.2810del | XP_005266487.1:p.Val937GlyfsTer5 | |
| XM_005266431.4:c.2774del | XP_005266488.1:p.Val925GlyfsTer5 | |
| XM_006719837.3:c.2714del | XP_006719900.1:p.Val905GlyfsTer5 | |
| XM_011535117.3:c.2714del | XP_011533419.1:p.Val905GlyfsTer5 | |
| XM_017020627.1:c.2714del | XP_016876116.1:p.Val905GlyfsTer5 | |
| NM_000053.4:c.2810del MANE Select | NP_000044.2:p.Val937GlyfsTer5 | |
| NM_001005918.3:c.2244+290del | NP_001005918.1:n.2244+290del | |
| NM_001330579.2:c.2558del | NP_001317508.1:p.Val853GlyfsTer5 | |
| NM_001243182.2:c.2477del | NP_001230111.1:p.Val826GlyfsTer5 | |
| NM_001330578.2:c.2576del | NP_001317507.1:p.Val859GlyfsTer5 |