ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050479_37050529del , CM000665.2:g.37050479_37050529del | GRCh38 |
| NC_000003.11:g.37091970_37092020del , CM000665.1:g.37091970_37092020del | GRCh37 |
| NC_000003.10:g.37066974_37067024del | NCBI36 |
| NG_007109.2:g.62130_62180del , LRG_216:g.62130_62180del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1668-7_1711del | ||
| ENST00000429117.6:c.1810-7_1853del | ||
| ENST00000450420.6:c.1559-7_*39del | ||
| ENST00000456676.7:c.1897-7_1940del | ||
| ENST00000492474.6:c.1381-7_1424del | ||
| ENST00000616768.6:c.2011-7_2054del | ||
| ENST00000673673.2:c.1939-7_1982del | ||
| ENST00000231790.8:c.2104-7_2147del | ||
| ENST00000413212.2:c.*1022-7_*1065del | ||
| ENST00000432299.6:c.*1936-7_*1979del | ||
| ENST00000447829.6:c.*1215-7_*1258del | ||
| ENST00000539477.6:c.1381-7_1424del | ||
| ENST00000616768.5:c.1048-7_1091del | ||
| ENST00000673673.1:c.1892-7_1935del | ||
| ENST00000673741.1:n.1138-7_1181del | ||
| ENST00000673889.1:n.1486-7_1529del | ||
| ENST00000673897.1:c.*1896-7_*1939del | ||
| ENST00000673899.1:c.1372-7_1415del | ||
| ENST00000673947.1:c.*2244-7_*2287del | ||
| ENST00000673972.1:c.*1982-7_*2025del | ||
| ENST00000674019.1:c.1381-7_1424del | ||
| ENST00000674111.1:c.*333-7_*376del | ||
| ENST00000674125.1:n.815-7_858del | ||
| ENST00000231790.6:c.2104-7_2147del | ||
| ENST00000413740.1:c.291-7_334del | ||
| ENST00000435176.5:c.1810-7_1853del | ||
| ENST00000450420.5:c.182-7_225del | ||
| ENST00000455445.6:c.1381-7_1424del | ||
| ENST00000456676.6:c.1872-7_1915del | ||
| ENST00000458205.6:c.1381-7_1424del | ||
| ENST00000536378.5:c.1381-7_1424del | ||
| ENST00000539477.5:c.1381-7_1424del | ||
| NM_000249.3:c.2104-7_2147del , LRG_216t1:c.2104-7_2147del | ||
| NM_001167617.1:c.1810-7_1853del | ||
| NM_001167618.1:c.1381-7_1424del | ||
| NM_001167619.1:c.1381-7_1424del | ||
| NM_001258271.1:c.1897-7_1940del | ||
| NM_001258273.1:c.1381-7_1424del | ||
| NM_001258274.1:c.1381-7_1424del | ||
| XM_005265161.1:c.1897-7_1940del | ||
| XM_005265163.1:c.1381-7_1424del | ||
| XM_005265164.1:c.1381-7_1424del | ||
| XM_005265166.1:c.1081-7_1124del | ||
| XM_011533727.1:c.1030-7_1073del | ||
| NM_001167617.2:c.1810-7_1853del | ||
| NM_001167618.2:c.1381-7_1424del | ||
| NM_001167619.2:c.1381-7_1424del | ||
| NM_001258274.2:c.1381-7_1424del | ||
| NM_001354615.1:c.1381-7_1424del | ||
| NM_001354616.1:c.1381-7_1424del | ||
| NM_001354617.1:c.1381-7_1424del | ||
| NM_001354618.1:c.1381-7_1424del | ||
| NM_001354619.1:c.1381-7_1424del | ||
| NM_001354620.1:c.1810-7_1853del | ||
| NM_001354621.1:c.1081-7_1124del | ||
| NM_001354622.1:c.1081-7_1124del | ||
| NM_001354623.1:c.1081-7_1124del | ||
| NM_001354624.1:c.1030-7_1073del | ||
| NM_001354625.1:c.1030-7_1073del | ||
| NM_001354626.1:c.1030-7_1073del | ||
| NM_001354627.1:c.1030-7_1073del | ||
| NM_001354628.1:c.2011-7_2054del | ||
| NM_001354629.1:c.2005-7_2048del | ||
| NM_001354630.1:c.1939-7_1982del | ||
| XM_005265161.2:c.1897-7_1940del | ||
| XM_017006450.2:c.1081-7_1124del | ||
| NM_000249.4:c.2104-7_2147del | ||
| NM_001167617.3:c.1810-7_1853del | ||
| NM_001167618.3:c.1381-7_1424del | ||
| NM_001167619.3:c.1381-7_1424del | ||
| NM_001258271.2:c.1897-7_1940del | ||
| NM_001258273.2:c.1381-7_1424del | ||
| NM_001258274.3:c.1381-7_1424del | ||
| NM_001354615.2:c.1381-7_1424del | ||
| NM_001354616.2:c.1381-7_1424del | ||
| NM_001354617.2:c.1381-7_1424del | ||
| NM_001354618.2:c.1381-7_1424del | ||
| NM_001354619.2:c.1381-7_1424del | ||
| NM_001354620.2:c.1810-7_1853del | ||
| NM_001354621.2:c.1081-7_1124del | ||
| NM_001354622.2:c.1081-7_1124del | ||
| NM_001354623.2:c.1081-7_1124del | ||
| NM_001354624.2:c.1030-7_1073del | ||
| NM_001354625.2:c.1030-7_1073del | ||
| NM_001354626.2:c.1030-7_1073del | ||
| NM_001354627.2:c.1030-7_1073del | ||
| NM_001354628.2:c.2011-7_2054del | ||
| NM_001354629.2:c.2005-7_2048del | ||
| NM_001354630.2:c.1939-7_1982del |