Linked Data
ClinVar Variation Id:
189015
dbSNP Id:
rs781266802
ExAC:
13:52513231 TCAGAAC / T
gnomAD v2:
13-52513231-TCAGAAC-T
gnomAD v3:
13-51939095-TCAGAAC-T
gnomAD v4:
13-51939095-TCAGAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51939098_51939103del , CM000675.2:g.51939098_51939103del | GRCh38 |
| NC_000013.10:g.52513234_52513239del , CM000675.1:g.52513234_52513239del | GRCh37 |
| NC_000013.9:g.51411235_51411240del | NCBI36 |
| NG_008806.1:g.77394_77399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1299_*1304del | ENSP00000489512.2:n.*1299_*1304del | |
| ENST00000673864.2:c.*2393_*2398del | ENSP00000501045.2:n.*2393_*2398del | |
| ENST00000674147.2:c.3028_3033del | ENSP00000500964.2:p.Val1010_Leu1011del | |
| ENST00000242839.10:c.3649_3654del MANE Select | ENSP00000242839.5:p.Val1217_Leu1218del | |
| ENST00000344297.9:c.3028_3033del | ENSP00000342559.5:p.Val1010_Leu1011del | |
| ENST00000400366.6:c.3316_3321del | ENSP00000383217.3:p.Val1106_Leu1107del | |
| ENST00000448424.7:c.3397_3402del | ENSP00000416738.3:p.Val1133_Leu1134del | |
| ENST00000673696.1:n.890_895del | ||
| ENST00000673772.1:c.3415_3420del | ENSP00000501168.1:p.Val1139_Leu1140del | |
| ENST00000673867.1:n.3788_3793del | ||
| ENST00000673923.1:n.515_520del | ||
| ENST00000674147.1:c.2584_2589del | ENSP00000500964.1:p.Val862_Leu863del | |
| ENST00000242839.8:c.3649_3654del | ENSP00000242839.4:p.Val1217_Leu1218del | |
| ENST00000344297.8:c.3028_3033del | ENSP00000342559.5:p.Val1010_Leu1011del | |
| ENST00000400366.5:c.3316_3321del | ENSP00000383217.3:p.Val1106_Leu1107del | |
| ENST00000400370.8:c.2359_2364del | ENSP00000383221.3:p.Val787_Leu788del | |
| ENST00000418097.7:c.3454_3459del | ENSP00000393343.2:p.Val1152_Leu1153del | |
| ENST00000448424.6:c.3415_3420del | ENSP00000416738.2:p.Val1139_Leu1140del | |
| ENST00000634296.1:c.1427_1432del | ||
| ENST00000634308.1:c.*750_*755del | ENSP00000489234.1:n.*750_*755del | |
| ENST00000634620.1:n.4393_4398del | ||
| ENST00000634810.1:n.2994_2999del | ||
| ENST00000634844.1:c.3505_3510del | ENSP00000489398.1:p.Val1169_Leu1170del | |
| NM_000053.3:c.3649_3654del | NP_000044.2:p.Val1217_Leu1218del | |
| NM_001005918.2:c.3028_3033del | NP_001005918.1:p.Val1010_Leu1011del | |
| NM_001243182.1:c.3316_3321del | NP_001230111.1:p.Val1106_Leu1107del | |
| XM_005266423.2:c.3553_3558del | XP_005266480.1:p.Val1185_Leu1186del | |
| XM_005266424.3:c.3553_3558del | XP_005266481.1:p.Val1185_Leu1186del | |
| XM_005266427.2:c.3415_3420del | XP_005266484.1:p.Val1139_Leu1140del | |
| XM_005266428.1:c.3397_3402del | XP_005266485.1:p.Val1133_Leu1134del | |
| XM_005266430.3:c.3649_3654del | XP_005266487.1:p.Val1217_Leu1218del | |
| XM_005266431.2:c.3613_3618del | XP_005266488.1:p.Val1205_Leu1206del | |
| XM_005266432.2:c.3163_3168del | XP_005266489.1:p.Val1055_Leu1056del | |
| XM_006719837.2:c.3553_3558del | XP_006719900.1:p.Val1185_Leu1186del | |
| XM_006719838.1:c.1465_1470del | XP_006719901.1:p.Val489_Leu490del | |
| XM_006719839.1:c.1282_1287del | XP_006719902.1:p.Val428_Leu429del | |
| XM_011535117.1:c.3553_3558del | XP_011533419.1:p.Val1185_Leu1186del | |
| XM_011535118.1:c.3514_3519del | XP_011533420.1:p.Val1172_Leu1173del | |
| XM_011535119.1:c.3466_3471del | XP_011533421.1:p.Val1156_Leu1157del | |
| XM_011535120.1:c.3235_3240del | XP_011533422.1:p.Val1079_Leu1080del | |
| XM_011535121.1:c.3136_3141del | XP_011533423.1:p.Val1046_Leu1047del | |
| XM_011535122.1:c.2317_2322del | XP_011533424.1:p.Val773_Leu774del | |
| XR_941601.1:n.3868_3873del | ||
| XR_941602.1:n.3868_3873del | ||
| XR_941603.1:n.3868_3873del | ||
| XR_941604.1:n.3868_3873del | ||
| NM_001330578.1:c.3415_3420del | NP_001317507.1:p.Val1139_Leu1140del | |
| NM_001330579.1:c.3397_3402del | NP_001317508.1:p.Val1133_Leu1134del | |
| XM_005266424.4:c.3553_3558del | XP_005266481.1:p.Val1185_Leu1186del | |
| XM_005266430.4:c.3649_3654del | XP_005266487.1:p.Val1217_Leu1218del | |
| XM_005266431.4:c.3613_3618del | XP_005266488.1:p.Val1205_Leu1206del | |
| XM_006719837.3:c.3553_3558del | XP_006719900.1:p.Val1185_Leu1186del | |
| XM_011535117.3:c.3553_3558del | XP_011533419.1:p.Val1185_Leu1186del | |
| XM_017020627.1:c.3553_3558del | XP_016876116.1:p.Val1185_Leu1186del | |
| NM_000053.4:c.3649_3654del MANE Select | NP_000044.2:p.Val1217_Leu1218del | |
| NM_001005918.3:c.3028_3033del | NP_001005918.1:p.Val1010_Leu1011del | |
| NM_001330579.2:c.3397_3402del | NP_001317508.1:p.Val1133_Leu1134del | |
| NM_001243182.2:c.3316_3321del | NP_001230111.1:p.Val1106_Leu1107del | |
| NM_001330578.2:c.3415_3420del | NP_001317507.1:p.Val1139_Leu1140del |