Linked Data
ClinVar Variation Id:
377199
ClinVar RCV Id:
RCV000431491
dbSNP Id:
rs1057520159
gnomAD v2:
9-95030503-ATC-A
gnomAD v4:
9-92268221-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92268223_92268224del , CM000671.2:g.92268223_92268224del | GRCh38 |
| NC_000009.11:g.95030505_95030506del , CM000671.1:g.95030505_95030506del | GRCh37 |
| NC_000009.10:g.94070326_94070327del | NCBI36 |
| NG_051498.1:g.30534_30535del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000472894.2:n.1474_1475del | ||
| ENST00000498025.2:n.3342_3343del | ||
| ENST00000682141.1:n.1474_1475del | ||
| ENST00000682156.1:n.2789_2790del | ||
| ENST00000682533.1:c.1382_1383del | ENSP00000507221.1:p.Arg461IlefsTer13 | |
| ENST00000682578.1:c.1382_1383del | ENSP00000506798.1:p.Arg461IlefsTer13 | |
| ENST00000682756.1:c.*926_*927del | ENSP00000508281.1:n.*926_*927del | |
| ENST00000682893.1:n.1474_1475del | ||
| ENST00000683119.1:c.1382_1383del | ENSP00000508070.1:p.Arg461IlefsTer13 | |
| ENST00000683192.1:c.*879_*880del | ENSP00000508102.1:n.*879_*880del | |
| ENST00000683376.1:n.3342_3343del | ||
| ENST00000683469.1:c.1382_1383del | ENSP00000507286.1:p.Arg461IlefsTer13 | |
| ENST00000683495.1:c.1382_1383del | ENSP00000507926.1:p.Arg461IlefsTer13 | |
| ENST00000683537.1:c.*879_*880del | ENSP00000508100.1:n.*879_*880del | |
| ENST00000683565.1:c.1382_1383del | ENSP00000507144.1:p.Arg461IlefsTer13 | |
| ENST00000683679.1:c.1382_1383del | ENSP00000507577.1:p.Arg461IlefsTer13 | |
| ENST00000683793.1:n.3644_3645del | ||
| ENST00000683817.1:c.1382_1383del | ENSP00000507796.1:p.Arg461IlefsTer13 | |
| ENST00000684445.1:c.1382_1383del | ENSP00000507341.1:p.Arg461IlefsTer13 | |
| ENST00000684542.1:c.*81_*82del | ENSP00000507051.1:n.*81_*82del | |
| ENST00000684557.1:c.1382_1383del | ENSP00000508205.1:p.Arg461IlefsTer13 | |
| ENST00000684726.1:n.3512_3513del | ||
| ENST00000684757.1:c.1382_1383del | ENSP00000507247.1:p.Arg461IlefsTer13 | |
| ENST00000443024.7:c.1382_1383del MANE Select | ENSP00000406448.4:p.Arg461IlefsTer13 | |
| ENST00000447699.7:c.1382_1383del | ENSP00000415020.3:p.Arg461IlefsTer13 | |
| ENST00000627121.3:c.*1009_*1010del | ENSP00000486469.2:n.*1009_*1010del | |
| ENST00000375643.7:c.1382_1383del | ENSP00000364794.3:p.Arg461IlefsTer13 | |
| ENST00000443024.6:c.1382_1383del | ENSP00000406448.3:p.Arg461IlefsTer13 | |
| ENST00000447699.6:c.1052_1053del | ENSP00000415020.2:p.Arg351IlefsTer13 | |
| ENST00000627121.2:c.-1460_-1459del | ENSP00000486469.1:n.-1460_-1459del | |
| NM_002161.5:c.1382_1383del | NP_002152.2:p.Arg461IlefsTer13 | |
| NM_013417.3:c.1382_1383del | NP_038203.2:p.Arg461IlefsTer13 | |
| NR_073446.1:n.1378_1379del | ||
| NM_001374299.1:c.1382_1383del | NP_001361228.1:p.Arg461IlefsTer13 | |
| NM_001374300.1:c.1382_1383del | NP_001361229.1:p.Arg461IlefsTer13 | |
| NM_001374301.1:c.1382_1383del | NP_001361230.1:p.Arg461IlefsTer13 | |
| NM_002161.6:c.1382_1383del MANE Select | NP_002152.2:p.Arg461IlefsTer13 | |
| NM_013417.4:c.1382_1383del | NP_038203.2:p.Arg461IlefsTer13 | |
| NR_073446.2:n.1319_1320del | ||
| NM_001378569.1:c.1445_1446del | NP_001365498.1:p.Arg482IlefsTer13 | |
| NM_001378571.1:c.1403_1404del | NP_001365500.1:p.Arg468IlefsTer13 | |
| NM_001378572.1:c.1382_1383del | NP_001365501.1:p.Arg461IlefsTer13 | |
| NM_001378573.1:c.1382_1383del | NP_001365502.1:p.Arg461IlefsTer13 | |
| NM_001378574.1:c.1382_1383del | NP_001365503.1:p.Arg461IlefsTer13 | |
| NM_001378575.1:c.1382_1383del | NP_001365504.1:p.Arg461IlefsTer13 | |
| NM_001378576.1:c.1382_1383del | NP_001365505.1:p.Arg461IlefsTer13 | |
| NM_001378577.1:c.1382_1383del | NP_001365506.1:p.Arg461IlefsTer13 | |
| NM_001378578.1:c.1382_1383del | NP_001365507.1:p.Arg461IlefsTer13 | |
| NM_001378579.1:c.1382_1383del | NP_001365508.1:p.Arg461IlefsTer13 | |
| NM_001378580.1:c.1382_1383del | NP_001365509.1:p.Arg461IlefsTer13 | |
| NM_001378582.1:c.1382_1383del | NP_001365511.1:p.Arg461IlefsTer13 | |
| NM_001378583.1:c.1259_1260del | NP_001365512.1:p.Arg420IlefsTer13 | |
| NM_001378584.1:c.1382_1383del | NP_001365513.1:p.Arg461IlefsTer13 | |
| NM_001378585.1:c.1382_1383del | NP_001365514.1:p.Arg461IlefsTer13 | |
| NM_001378586.1:c.1382_1383del | NP_001365515.1:p.Arg461IlefsTer13 |