Linked Data
ClinVar Variation Id:
370093
ClinVar RCV Id:
RCV000412369
dbSNP Id:
rs1057516228
gnomAD v4:
13-51937348-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937350del , CM000675.2:g.51937350del | GRCh38 |
| NC_000013.10:g.52511486del , CM000675.1:g.52511486del | GRCh37 |
| NC_000013.9:g.51409487del | NCBI36 |
| NG_008806.1:g.79146del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1598del | ENSP00000489512.2:n.*1598del | |
| ENST00000673864.2:c.*2692del | ENSP00000501045.2:n.*2692del | |
| ENST00000674147.2:c.3327del | ENSP00000500964.2:p.Thr1110LeufsTer13 | |
| ENST00000242839.10:c.3948del MANE Select | ENSP00000242839.5:p.Thr1317LeufsTer13 | |
| ENST00000344297.9:c.3327del | ENSP00000342559.5:p.Thr1110LeufsTer13 | |
| ENST00000400366.6:c.3615del | ENSP00000383217.3:p.Thr1206LeufsTer13 | |
| ENST00000448424.7:c.3696del | ENSP00000416738.3:p.Thr1233LeufsTer13 | |
| ENST00000673696.1:n.1271del | ||
| ENST00000673772.1:c.3714del | ENSP00000501168.1:p.Thr1239LeufsTer13 | |
| ENST00000673867.1:n.4087del | ||
| ENST00000673923.1:n.814del | ||
| ENST00000674147.1:c.2883del | ENSP00000500964.1:p.Thr962LeufsTer13 | |
| ENST00000242839.8:c.3948del | ENSP00000242839.4:p.Thr1317LeufsTer13 | |
| ENST00000344297.8:c.3327del | ENSP00000342559.5:p.Thr1110LeufsTer13 | |
| ENST00000400366.5:c.3615del | ENSP00000383217.3:p.Thr1206LeufsTer13 | |
| ENST00000400370.8:c.2658del | ENSP00000383221.3:p.Thr887LeufsTer13 | |
| ENST00000418097.7:c.3753del | ENSP00000393343.2:p.Thr1252LeufsTer13 | |
| ENST00000448424.6:c.3714del | ENSP00000416738.2:p.Thr1239LeufsTer13 | |
| ENST00000634296.1:c.1726del | ||
| ENST00000634308.1:c.*1049del | ENSP00000489234.1:n.*1049del | |
| ENST00000634620.1:n.4692del | ||
| ENST00000634810.1:n.3293del | ||
| ENST00000634844.1:c.3804del | ENSP00000489398.1:p.Thr1269LeufsTer13 | |
| NM_000053.3:c.3948del | NP_000044.2:p.Thr1317LeufsTer13 | |
| NM_001005918.2:c.3327del | NP_001005918.1:p.Thr1110LeufsTer13 | |
| NM_001243182.1:c.3615del | NP_001230111.1:p.Thr1206LeufsTer13 | |
| XM_005266423.2:c.3852del | XP_005266480.1:p.Thr1285LeufsTer13 | |
| XM_005266424.3:c.3852del | XP_005266481.1:p.Thr1285LeufsTer13 | |
| XM_005266427.2:c.3714del | XP_005266484.1:p.Thr1239LeufsTer13 | |
| XM_005266428.1:c.3696del | XP_005266485.1:p.Thr1233LeufsTer13 | |
| XM_005266430.3:c.3948del | XP_005266487.1:p.Thr1317LeufsTer13 | |
| XM_005266431.2:c.3912del | XP_005266488.1:p.Thr1305LeufsTer13 | |
| XM_005266432.2:c.3462del | XP_005266489.1:p.Thr1155LeufsTer13 | |
| XM_006719837.2:c.3852del | XP_006719900.1:p.Thr1285LeufsTer13 | |
| XM_006719838.1:c.1764del | XP_006719901.1:p.Thr589LeufsTer13 | |
| XM_006719839.1:c.1581del | XP_006719902.1:p.Thr528LeufsTer13 | |
| XM_011535117.1:c.3852del | XP_011533419.1:p.Thr1285LeufsTer13 | |
| XM_011535118.1:c.3813del | XP_011533420.1:p.Thr1272LeufsTer13 | |
| XM_011535119.1:c.3765del | XP_011533421.1:p.Thr1256LeufsTer13 | |
| XM_011535120.1:c.3534del | XP_011533422.1:p.Thr1179LeufsTer13 | |
| XM_011535121.1:c.3435del | XP_011533423.1:p.Thr1146LeufsTer13 | |
| XM_011535122.1:c.2616del | XP_011533424.1:p.Thr873LeufsTer13 | |
| XR_941601.1:n.4167del | ||
| XR_941602.1:n.4167del | ||
| XR_941603.1:n.4167del | ||
| XR_941604.1:n.4167del | ||
| NM_001330578.1:c.3714del | NP_001317507.1:p.Thr1239LeufsTer13 | |
| NM_001330579.1:c.3696del | NP_001317508.1:p.Thr1233LeufsTer13 | |
| XM_005266424.4:c.3852del | XP_005266481.1:p.Thr1285LeufsTer13 | |
| XM_005266430.4:c.3948del | XP_005266487.1:p.Thr1317LeufsTer13 | |
| XM_005266431.4:c.3912del | XP_005266488.1:p.Thr1305LeufsTer13 | |
| XM_006719837.3:c.3852del | XP_006719900.1:p.Thr1285LeufsTer13 | |
| XM_011535117.3:c.3852del | XP_011533419.1:p.Thr1285LeufsTer13 | |
| XM_017020627.1:c.3852del | XP_016876116.1:p.Thr1285LeufsTer13 | |
| NM_000053.4:c.3948del MANE Select | NP_000044.2:p.Thr1317LeufsTer13 | |
| NM_001005918.3:c.3327del | NP_001005918.1:p.Thr1110LeufsTer13 | |
| NM_001330579.2:c.3696del | NP_001317508.1:p.Thr1233LeufsTer13 | |
| NM_001243182.2:c.3615del | NP_001230111.1:p.Thr1206LeufsTer13 | |
| NM_001330578.2:c.3714del | NP_001317507.1:p.Thr1239LeufsTer13 |