ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45330501_45330605del , CM000663.2:g.45330501_45330605del | GRCh38 |
| NC_000001.10:g.45796173_45796277del , CM000663.1:g.45796173_45796277del | GRCh37 |
| NC_000001.9:g.45568760_45568864del | NCBI36 |
| NG_008189.1:g.14870_14974del , LRG_220:g.14870_14974del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1009-44_1050+19del | ||
| ENST00000435155.2:c.1426-44_1467+19del | ||
| ENST00000467459.6:c.*255-44_*296+19del | ||
| ENST00000483127.2:c.1411-44_1452+19del | ||
| ENST00000485271.6:c.1393-44_1434+19del | ||
| ENST00000529892.6:c.1246-44_1287+19del | ||
| ENST00000533178.6:c.*722-44_*763+19del | ||
| ENST00000672314.2:c.1393-44_1434+19del | ||
| ENST00000710952.2:c.1477-44_1518+19del | ||
| ENST00000672818.3:c.1468-44_1509+19del | ||
| ENST00000456914.7:c.1393-44_1434+19del | ||
| ENST00000671898.1:c.1981-44_2022+19del | ||
| ENST00000672011.1:c.*722-44_*763+19del | ||
| ENST00000672818.2:c.1468-44_1509+19del | ||
| ENST00000673134.1:c.*1090-44_*1131+19del | ||
| ENST00000354383.10:c.1396-44_1437+19del | ||
| ENST00000355498.6:c.1393-44_1434+19del | ||
| ENST00000372098.7:c.1468-44_1509+19del | ||
| ENST00000372104.5:c.1393-44_1434+19del | ||
| ENST00000372110.7:c.1438-44_1479+19del | ||
| ENST00000372115.7:c.1435-44_1476+19del | ||
| ENST00000448481.5:c.1426-44_1467+19del | ||
| ENST00000450313.5:c.1477-44_1518+19del | ||
| ENST00000456914.6:c.1393-44_1434+19del | ||
| ENST00000467459.5:c.810-44_851+19del | ||
| ENST00000475516.5:c.*1206-44_*1247+19del | ||
| ENST00000481571.5:c.*1206-44_*1247+19del | ||
| ENST00000482094.5:n.714-44_755+19del | ||
| ENST00000485271.5:c.90-44_131+19del | ||
| ENST00000488731.6:c.478-44_519+19del | ||
| ENST00000528013.6:c.1435-44_1476+19del | ||
| ENST00000529892.5:c.468-44_509+19del | ||
| ENST00000529984.5:c.478-44_519+19del | ||
| ENST00000531105.5:c.116-1164_116-1060del | ENSP00000431292.1:n.116-1164_116-1060del | |
| ENST00000533178.5:c.1022-44_1063+19del | ||
| NM_001048171.1:c.1435-44_1476+19del | ||
| NM_001048172.1:c.1396-44_1437+19del | ||
| NM_001048173.1:c.1393-44_1434+19del | ||
| NM_001048174.1:c.1393-44_1434+19del | ||
| NM_001128425.1:c.1477-44_1518+19del , LRG_220t1:c.1477-44_1518+19del | ||
| NM_001293190.1:c.1438-44_1479+19del | ||
| NM_001293191.1:c.1426-44_1467+19del | ||
| NM_001293192.1:c.1117-44_1158+19del | ||
| NM_001293195.1:c.1393-44_1434+19del | ||
| NM_001293196.1:c.1117-44_1158+19del | ||
| NM_012222.2:c.1468-44_1509+19del | ||
| XM_011541497.1:c.1453-44_1494+19del | ||
| XM_011541498.1:c.1435-44_1476+19del | ||
| XM_011541499.1:c.1435-44_1476+19del | ||
| XM_011541500.1:c.1435-44_1476+19del | ||
| XM_011541501.1:c.1435-44_1476+19del | ||
| XM_011541502.1:c.1435-44_1476+19del | ||
| XM_011541503.1:c.1435-44_1476+19del | ||
| XM_011541504.1:c.1426-44_1467+19del | ||
| XM_011541505.1:c.1015-44_1056+19del | ||
| XM_011541506.1:c.1015-44_1056+19del | ||
| XM_011541507.1:c.1006-44_1047+19del | ||
| XM_011541508.1:c.1021-44_1062+19del | ||
| XR_946658.1:n.1524-44_1565+19del | ||
| NM_001350650.1:c.1048-44_1089+19del | ||
| NM_001350651.1:c.1048-44_1089+19del | ||
| NR_146882.1:n.1651-44_1692+19del | ||
| NR_146883.1:n.1465-44_1506+19del | ||
| XM_011541497.3:c.1453-44_1494+19del | ||
| XM_011541500.3:c.1435-44_1476+19del | ||
| XM_011541501.2:c.1435-44_1476+19del | ||
| XM_011541502.2:c.1435-44_1476+19del | ||
| XM_011541503.2:c.1435-44_1476+19del | ||
| XM_011541504.2:c.1426-44_1467+19del | ||
| XM_011541505.2:c.1015-44_1056+19del | ||
| XM_011541506.2:c.1015-44_1056+19del | ||
| XM_017001331.1:c.1435-44_1476+19del | ||
| XM_017001332.1:c.1435-44_1476+19del | ||
| XM_017001333.1:c.1435-44_1476+19del | ||
| XM_017001334.1:c.1396-44_1437+19del | ||
| XM_017001335.1:c.1117-44_1158+19del | ||
| XM_017001336.1:c.1048-44_1089+19del | ||
| XM_017001337.1:c.1048-44_1089+19del | ||
| XM_024447244.1:c.1048-44_1089+19del | ||
| XM_024447245.1:c.1048-44_1089+19del | ||
| XM_024447248.1:c.1006-44_1047+19del | ||
| XM_024447249.1:c.877-44_918+19del | ||
| XM_024447250.1:c.877-44_918+19del | ||
| XM_024447251.1:c.877-44_918+19del | ||
| XR_001737190.1:n.1438-44_1479+19del | ||
| XR_001737192.1:n.1250-44_1291+19del | ||
| XR_002956643.1:n.1430-44_1471+19del | ||
| XR_002956644.1:n.1965-44_2006+19del | ||
| XR_946658.2:n.1538-44_1579+19del | ||
| NM_001048171.2:c.1393-44_1434+19del | ||
| NM_001128425.2:c.1477-44_1518+19del | ||
| NM_001048172.2:c.1396-44_1437+19del | ||
| NM_001048173.2:c.1393-44_1434+19del | ||
| NM_001048174.2:c.1393-44_1434+19del | ||
| NM_001293190.2:c.1438-44_1479+19del | ||
| NM_001293191.2:c.1426-44_1467+19del | ||
| NM_001293192.2:c.1117-44_1158+19del | ||
| NM_001293195.2:c.1393-44_1434+19del | ||
| NM_001293196.2:c.1117-44_1158+19del | ||
| NM_001350650.2:c.1048-44_1089+19del | ||
| NM_001350651.2:c.1048-44_1089+19del | ||
| NM_012222.3:c.1468-44_1509+19del | ||
| NR_146882.2:n.1621-44_1662+19del | ||
| NR_146883.2:n.1470-44_1511+19del |