Linked Data
ClinVar Variation Id:
633074
dbSNP Id:
rs1566598496
gnomAD v3:
13-51974411-GACTTACA-G
gnomAD v4:
13-51974411-GACTTACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51974413_51974419del , CM000675.2:g.51974413_51974419del | GRCh38 |
| NC_000013.10:g.52548549_52548555del , CM000675.1:g.52548549_52548555del | GRCh37 |
| NC_000013.9:g.51446550_51446556del | NCBI36 |
| NG_008806.1:g.42077_42083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.802_808del | ENSP00000489512.2:p.Cys268LeufsTer4 | |
| ENST00000673864.2:c.802_808del | ENSP00000501045.2:p.Cys268LeufsTer4 | |
| ENST00000674147.2:c.802_808del | ENSP00000500964.2:p.Cys268LeufsTer4 | |
| ENST00000242839.10:c.802_808del MANE Select | ENSP00000242839.5:p.Cys268LeufsTer4 | |
| ENST00000344297.9:c.802_808del | ENSP00000342559.5:p.Cys268LeufsTer4 | |
| ENST00000400366.6:c.802_802+6del | ||
| ENST00000448424.7:c.802_808del | ENSP00000416738.3:p.Cys268LeufsTer4 | |
| ENST00000673772.1:c.802_808del | ENSP00000501168.1:p.Cys268LeufsTer4 | |
| ENST00000674078.1:n.907_913del | ||
| ENST00000674147.1:c.358_364del | ENSP00000500964.1:p.Cys120LeufsTer4 | |
| ENST00000242839.8:c.802_808del | ENSP00000242839.4:p.Cys268LeufsTer4 | |
| ENST00000344297.8:c.802_808del | ENSP00000342559.5:p.Cys268LeufsTer4 | |
| ENST00000400366.5:c.802_802+6del | ||
| ENST00000400370.8:c.802_808del | ENSP00000383221.3:p.Cys268LeufsTer4 | |
| ENST00000418097.7:c.802_808del | ENSP00000393343.2:p.Cys268LeufsTer4 | |
| ENST00000448424.6:c.802_808del | ENSP00000416738.2:p.Cys268LeufsTer4 | |
| ENST00000482841.6:n.923_929del | ||
| ENST00000634308.1:c.802_808del | ENSP00000489234.1:p.Cys268LeufsTer4 | |
| ENST00000634844.1:c.802_808del | ENSP00000489398.1:p.Cys268LeufsTer4 | |
| ENST00000635406.1:n.212-27940_212-27934del | ||
| NM_000053.3:c.802_808del | NP_000044.2:p.Cys268LeufsTer4 | |
| NM_001005918.2:c.802_808del | NP_001005918.1:p.Cys268LeufsTer4 | |
| NM_001243182.1:c.802_802+6del | ||
| XM_005266423.2:c.706_712del | XP_005266480.1:p.Cys236LeufsTer4 | |
| XM_005266424.3:c.706_712del | XP_005266481.1:p.Cys236LeufsTer4 | |
| XM_005266427.2:c.802_808del | XP_005266484.1:p.Cys268LeufsTer4 | |
| XM_005266428.1:c.802_808del | XP_005266485.1:p.Cys268LeufsTer4 | |
| XM_005266430.3:c.802_808del | XP_005266487.1:p.Cys268LeufsTer4 | |
| XM_005266431.2:c.766_772del | XP_005266488.1:p.Cys256LeufsTer4 | |
| XM_005266432.2:c.802_808del | XP_005266489.1:p.Cys268LeufsTer4 | |
| XM_006719837.2:c.706_712del | XP_006719900.1:p.Cys236LeufsTer4 | |
| XM_011535117.1:c.706_712del | XP_011533419.1:p.Cys236LeufsTer4 | |
| XM_011535118.1:c.802_808del | XP_011533420.1:p.Cys268LeufsTer4 | |
| XM_011535119.1:c.802_808del | XP_011533421.1:p.Cys268LeufsTer4 | |
| XM_011535120.1:c.802_808del | XP_011533422.1:p.Cys268LeufsTer4 | |
| XM_011535121.1:c.802_808del | XP_011533423.1:p.Cys268LeufsTer4 | |
| XR_941601.1:n.1021_1027del | ||
| XR_941602.1:n.1021_1027del | ||
| XR_941603.1:n.1021_1027del | ||
| XR_941604.1:n.1021_1027del | ||
| NM_001330578.1:c.802_808del | NP_001317507.1:p.Cys268LeufsTer4 | |
| NM_001330579.1:c.802_808del | NP_001317508.1:p.Cys268LeufsTer4 | |
| XM_005266424.4:c.706_712del | XP_005266481.1:p.Cys236LeufsTer4 | |
| XM_005266430.4:c.802_808del | XP_005266487.1:p.Cys268LeufsTer4 | |
| XM_005266431.4:c.766_772del | XP_005266488.1:p.Cys256LeufsTer4 | |
| XM_006719837.3:c.706_712del | XP_006719900.1:p.Cys236LeufsTer4 | |
| XM_011535117.3:c.706_712del | XP_011533419.1:p.Cys236LeufsTer4 | |
| XM_017020627.1:c.706_712del | XP_016876116.1:p.Cys236LeufsTer4 | |
| NM_000053.4:c.802_808del MANE Select | NP_000044.2:p.Cys268LeufsTer4 | |
| NM_001005918.3:c.802_808del | NP_001005918.1:p.Cys268LeufsTer4 | |
| NM_001330579.2:c.802_808del | NP_001317508.1:p.Cys268LeufsTer4 | |
| NM_001243182.2:c.802_802+6del | ||
| NM_001330578.2:c.802_808del | NP_001317507.1:p.Cys268LeufsTer4 |