ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
2.8e-7 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71645833_71645866del , CM000672.2:g.71645833_71645866del | GRCh38 |
| NC_000010.10:g.73405590_73405623del , CM000672.1:g.73405590_73405623del | GRCh37 |
| NC_000010.9:g.73075596_73075629del | NCBI36 |
| NG_008835.1:g.253887_253920del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.1143_1176del | ||
| ENST00000398809.9:c.1143_1176del | ||
| ENST00000442677.4:c.1143_1176del | ||
| ENST00000466757.8:c.574_607del | ||
| ENST00000643732.1:n.979_1012del | ||
| ENST00000646131.1:c.807_840del | ||
| ENST00000224721.10:c.1158_1191del | ||
| ENST00000299366.11:c.1143_1176del | ||
| ENST00000398809.8:c.1143_1176del | ||
| ENST00000398842.7:c.888_921del | ||
| ENST00000461841.7:c.1143_1176del | ||
| ENST00000466757.7:c.574_607del | ||
| ENST00000470494.5:c.112_145del | ||
| ENST00000616684.4:c.1143_1176del | ||
| ENST00000622827.4:c.1143_1176del | ENSP00000483211.1:p.Leu382ThrfsTer? | |
| NM_001171930.1:c.1143_1176del | ||
| NM_001171931.1:c.1143_1176del | ||
| NM_022124.5:c.1143_1176del | ||
| NM_052836.3:c.1143_1176del | ||
| XM_006717940.2:c.1338_1371del | ||
| XM_006717942.2:c.1272_1305del | ||
| XM_011540039.1:c.1338_1371del | ||
| XM_011540040.1:c.1332_1365del | ||
| XM_011540041.1:c.1278_1311del | ||
| XM_011540042.1:c.1338_1371del | ||
| XM_011540043.1:c.1338_1371del | ||
| XM_011540044.1:c.1203_1236del | ||
| XM_011540045.1:c.1338_1371del | ||
| XM_011540046.1:c.798_831del | ||
| XM_011540047.1:c.156_189del | ||
| XM_011540048.1:c.1338_1371del | ||
| XM_011540049.1:c.1338_1371del | ||
| XM_011540050.1:c.1338_1371del | ||
| XM_011540051.1:c.1338_1371del | ||
| XM_011540053.1:c.1338_1371del | ||
| XM_011540054.1:c.1278_1311del | ||
| XR_945796.1:n.1581_1614del | ||
| NM_001171930.2:c.1143_1176del | ||
| NM_001171931.2:c.1143_1176del | ||
| NM_022124.6:c.1143_1176del | ||
| NM_052836.4:c.1143_1176del |