Linked Data
ClinVar Variation Id:
1162226
ClinVar RCV Id:
RCV001507000
dbSNP Id:
rs2139207205
gnomAD v4:
13-51950086-AGCACAGAGCCATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51950090_51950103del , CM000675.2:g.51950090_51950103del | GRCh38 |
| NC_000013.10:g.52524226_52524239del , CM000675.1:g.52524226_52524239del | GRCh37 |
| NC_000013.9:g.51422227_51422240del | NCBI36 |
| NG_008806.1:g.66395_66408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*470_*483del | ENSP00000489512.2:n.*470_*483del | |
| ENST00000673864.2:c.*1381_*1394del | ENSP00000501045.2:n.*1381_*1394del | |
| ENST00000674147.2:c.2151_2164del | ENSP00000500964.2:p.Gly719Ter | |
| ENST00000242839.10:c.2637_2650del MANE Select | ENSP00000242839.5:p.Gly881Ter | |
| ENST00000344297.9:c.2151_2164del | ENSP00000342559.5:p.Gly719Ter | |
| ENST00000400366.6:c.2304_2317del | ENSP00000383217.3:p.Gly770Ter | |
| ENST00000448424.7:c.2385_2398del | ENSP00000416738.3:p.Gly797Ter | |
| ENST00000673772.1:c.2403_2416del | ENSP00000501168.1:p.Gly803Ter | |
| ENST00000674147.1:c.1707_1720del | ENSP00000500964.1:p.Gly571Ter | |
| ENST00000242839.8:c.2637_2650del | ENSP00000242839.4:p.Gly881Ter | |
| ENST00000344297.8:c.2151_2164del | ENSP00000342559.5:p.Gly719Ter | |
| ENST00000400366.5:c.2304_2317del | ENSP00000383217.3:p.Gly770Ter | |
| ENST00000400370.8:c.1347_1360del | ENSP00000383221.3:p.Gly451Ter | |
| ENST00000418097.7:c.2637_2650del | ENSP00000393343.2:p.Gly881Ter | |
| ENST00000448424.6:c.2403_2416del | ENSP00000416738.2:p.Gly803Ter | |
| ENST00000634296.1:c.598_611del | ||
| ENST00000634308.1:c.2403_2416del | ENSP00000489234.1:p.Gly803Ter | |
| ENST00000634620.1:n.3435_3448del | ||
| ENST00000634810.1:n.1982_1995del | ||
| ENST00000634844.1:c.2493_2506del | ENSP00000489398.1:p.Gly833Ter | |
| ENST00000635406.1:n.212-3622_212-3609del | ||
| NM_000053.3:c.2637_2650del | NP_000044.2:p.Gly881Ter | |
| NM_001005918.2:c.2151_2164del | NP_001005918.1:p.Gly719Ter | |
| NM_001243182.1:c.2304_2317del | NP_001230111.1:p.Gly770Ter | |
| XM_005266423.2:c.2541_2554del | XP_005266480.1:p.Gly849Ter | |
| XM_005266424.3:c.2541_2554del | XP_005266481.1:p.Gly849Ter | |
| XM_005266427.2:c.2403_2416del | XP_005266484.1:p.Gly803Ter | |
| XM_005266428.1:c.2385_2398del | XP_005266485.1:p.Gly797Ter | |
| XM_005266430.3:c.2637_2650del | XP_005266487.1:p.Gly881Ter | |
| XM_005266431.2:c.2601_2614del | XP_005266488.1:p.Gly869Ter | |
| XM_005266432.2:c.2151_2164del | XP_005266489.1:p.Gly719Ter | |
| XM_006719837.2:c.2541_2554del | XP_006719900.1:p.Gly849Ter | |
| XM_006719838.1:c.453_466del | XP_006719901.1:p.Gly153Ter | |
| XM_006719839.1:c.453_466del | XP_006719902.1:p.Gly153Ter | |
| XM_011535117.1:c.2541_2554del | XP_011533419.1:p.Gly849Ter | |
| XM_011535118.1:c.2637_2650del | XP_011533420.1:p.Gly881Ter | |
| XM_011535119.1:c.2637_2650del | XP_011533421.1:p.Gly881Ter | |
| XM_011535120.1:c.2223_2236del | XP_011533422.1:p.Gly743Ter | |
| XM_011535121.1:c.2637_2650del | XP_011533423.1:p.Gly881Ter | |
| XM_011535122.1:c.1305_1318del | XP_011533424.1:p.Gly437Ter | |
| XR_941601.1:n.2856_2869del | ||
| XR_941602.1:n.2856_2869del | ||
| XR_941603.1:n.2856_2869del | ||
| XR_941604.1:n.2856_2869del | ||
| NM_001330578.1:c.2403_2416del | NP_001317507.1:p.Gly803Ter | |
| NM_001330579.1:c.2385_2398del | NP_001317508.1:p.Gly797Ter | |
| XM_005266424.4:c.2541_2554del | XP_005266481.1:p.Gly849Ter | |
| XM_005266430.4:c.2637_2650del | XP_005266487.1:p.Gly881Ter | |
| XM_005266431.4:c.2601_2614del | XP_005266488.1:p.Gly869Ter | |
| XM_006719837.3:c.2541_2554del | XP_006719900.1:p.Gly849Ter | |
| XM_011535117.3:c.2541_2554del | XP_011533419.1:p.Gly849Ter | |
| XM_017020627.1:c.2541_2554del | XP_016876116.1:p.Gly849Ter | |
| NM_000053.4:c.2637_2650del MANE Select | NP_000044.2:p.Gly881Ter | |
| NM_001005918.3:c.2151_2164del | NP_001005918.1:p.Gly719Ter | |
| NM_001330579.2:c.2385_2398del | NP_001317508.1:p.Gly797Ter | |
| NM_001243182.2:c.2304_2317del | NP_001230111.1:p.Gly770Ter | |
| NM_001330578.2:c.2403_2416del | NP_001317507.1:p.Gly803Ter |