ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158591_14158592del , CM000665.2:g.14158591_14158592del | GRCh38 |
| NC_000003.11:g.14200091_14200092del , CM000665.1:g.14200091_14200092del | GRCh37 |
| NC_000003.10:g.14175095_14175096del | NCBI36 |
| NG_011763.1:g.25082_25083del , LRG_472:g.25082_25083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1292_1293del MANE Select | ENSP00000285021.8:p.Lys431ArgfsTer6 | |
| ENST00000285021.11:c.1292_1293del | ENSP00000285021.7:p.Lys431ArgfsTer6 | |
| ENST00000476581.6:c.*745_*746del | ENSP00000424548.1:n.*745_*746del | |
| NM_004628.4:c.1292_1293del , LRG_472t1:c.1292_1293del | NP_004619.3:p.Lys431ArgfsTer6 | |
| NR_027299.1:n.1272_1273del | ||
| XM_011534092.1:c.1292_1293del | XP_011532394.1:p.Lys431ArgfsTer6 | |
| XM_011534093.1:c.1292_1293del | XP_011532395.1:p.Lys431ArgfsTer6 | |
| NM_001354726.1:c.713_714del | NP_001341655.1:p.Lys238ArgfsTer6 | |
| NM_001354727.1:c.1292_1293del | NP_001341656.1:p.Lys431ArgfsTer6 | |
| NM_001354729.1:c.1274_1275del | NP_001341658.1:p.Lys425ArgfsTer6 | |
| NM_001354730.1:c.1292_1293del | NP_001341659.1:p.Lys431ArgfsTer6 | |
| NR_148950.1:n.1396_1397del | ||
| NR_148951.1:n.1272_1273del | ||
| XR_001740256.2:n.1325_1326del | ||
| XR_002959580.1:n.1325_1326del | ||
| XR_002959581.1:n.1325_1326del | ||
| NM_001354727.2:c.1292_1293del | NP_001341656.1:p.Lys431ArgfsTer6 | |
| NM_004628.5:c.1292_1293del MANE Select | NP_004619.3:p.Lys431ArgfsTer6 | |
| NR_148950.2:n.1325_1326del | ||
| NR_148951.2:n.1201_1202del | ||
| NM_001354726.2:c.713_714del | NP_001341655.1:p.Lys238ArgfsTer6 | |
| NM_001354729.2:c.1274_1275del | NP_001341658.1:p.Lys425ArgfsTer6 | |
| NM_001354730.2:c.1292_1293del | NP_001341659.1:p.Lys431ArgfsTer6 |