SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37050637_37050650delinsA , CM000665.2:g.37050637_37050650delinsA | GRCh38 |
| NC_000003.11:g.37092128_37092141delinsA , CM000665.1:g.37092128_37092141delinsA | GRCh37 |
| NC_000003.10:g.37067132_37067145delinsA | NCBI36 |
| NG_007109.2:g.62288_62301delinsA , LRG_216:g.62288_62301delinsA | |
| NG_053016.1:g.131168_131181delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1819_1832delinsA | ENSP00000416476.2:p.Ser607IlefsTer? | |
| ENST00000429117.6:c.1961_1974delinsA | ENSP00000407019.2:p.Val654AspfsTer27 | |
| ENST00000456676.7:c.2048_2061delinsA | ENSP00000416687.3:p.Val683AspfsTer27 | |
| ENST00000492474.6:c.1532_1545delinsA | ENSP00000518393.1:p.Val511AspfsTer27 | |
| ENST00000616768.6:c.2162_2175delinsA | ENSP00000480669.3:p.Val721AspfsTer27 | |
| ENST00000673673.2:c.2090_2103delinsA | ENSP00000500979.2:p.Val697AspfsTer27 | |
| ENST00000231790.8:c.2255_2268delinsA MANE Select | ENSP00000231790.3:p.Val752AspfsTer27 | |
| ENST00000413212.2:c.*1173_*1186delinsA | ENSP00000400844.2:n.*1173_*1186delinsA | |
| ENST00000432299.6:c.*2087_*2100delinsA | ENSP00000416783.1:n.*2087_*2100delinsA | |
| ENST00000447829.6:c.*1366_*1379delinsA | ENSP00000399329.2:n.*1366_*1379delinsA | |
| ENST00000539477.6:c.1532_1545delinsA | ENSP00000443665.1:p.Val511AspfsTer27 | |
| ENST00000616768.5:c.1199_1212delinsA | ENSP00000480669.2:p.Val400AspfsTer27 | |
| ENST00000673673.1:c.2043_2056delinsA | ||
| ENST00000673741.1:n.1289_1302delinsA | ||
| ENST00000673889.1:n.1637_1650delinsA | ||
| ENST00000673897.1:c.*2047_*2060delinsA | ENSP00000501109.1:n.*2047_*2060delinsA | |
| ENST00000673899.1:c.1523_1536delinsA | ENSP00000501030.1:p.Val508AspfsTer27 | |
| ENST00000673947.1:c.*2395_*2408delinsA | ENSP00000501304.1:n.*2395_*2408delinsA | |
| ENST00000673972.1:c.*2133_*2146delinsA | ENSP00000501281.1:n.*2133_*2146delinsA | |
| ENST00000674019.1:c.1532_1545delinsA | ENSP00000501081.1:p.Val511AspfsTer27 | |
| ENST00000674111.1:c.*484_*497delinsA | ENSP00000501162.1:n.*484_*497delinsA | |
| ENST00000674125.1:n.966_979delinsA | ||
| ENST00000231790.6:c.2255_2268delinsA | ENSP00000231790.2:p.Val752AspfsTer27 | |
| ENST00000435176.5:c.1961_1974delinsA | ENSP00000402564.1:p.Val654AspfsTer27 | |
| ENST00000455445.6:c.1532_1545delinsA | ENSP00000398272.2:p.Val511AspfsTer? | |
| ENST00000456676.6:c.2023_2036delinsA | ||
| ENST00000458205.6:c.1532_1545delinsA | ENSP00000402667.2:p.Val511AspfsTer27 | |
| ENST00000536378.5:c.1532_1545delinsA | ENSP00000444286.2:p.Val511AspfsTer27 | |
| ENST00000539477.5:c.1532_1545delinsA | ENSP00000443665.1:p.Val511AspfsTer27 | |
| NM_000249.3:c.2255_2268delinsA , LRG_216t1:c.2255_2268delinsA | NP_000240.1:p.Val752AspfsTer27 | |
| NM_001167617.1:c.1961_1974delinsA | NP_001161089.1:p.Val654AspfsTer27 | |
| NM_001167618.1:c.1532_1545delinsA | NP_001161090.1:p.Val511AspfsTer27 | |
| NM_001167619.1:c.1532_1545delinsA | NP_001161091.1:p.Val511AspfsTer27 | |
| NM_001258271.1:c.2048_2061delinsA | NP_001245200.1:p.Val683AspfsTer27 | |
| NM_001258273.1:c.1532_1545delinsA | NP_001245202.1:p.Val511AspfsTer27 | |
| NM_001258274.1:c.1532_1545delinsA | NP_001245203.1:p.Val511AspfsTer27 | |
| XM_005265161.1:c.2048_2061delinsA | XP_005265218.1:p.Val683AspfsTer27 | |
| XM_005265163.1:c.1532_1545delinsA | XP_005265220.1:p.Val511AspfsTer27 | |
| XM_005265164.1:c.1532_1545delinsA | XP_005265221.1:p.Val511AspfsTer27 | |
| XM_005265166.1:c.1232_1245delinsA | XP_005265223.1:p.Val411AspfsTer27 | |
| XM_011533727.1:c.1181_1194delinsA | XP_011532029.1:p.Val394AspfsTer27 | |
| NM_001167617.2:c.1961_1974delinsA | NP_001161089.1:p.Val654AspfsTer27 | |
| NM_001167618.2:c.1532_1545delinsA | NP_001161090.1:p.Val511AspfsTer27 | |
| NM_001167619.2:c.1532_1545delinsA | NP_001161091.1:p.Val511AspfsTer27 | |
| NM_001258274.2:c.1532_1545delinsA | NP_001245203.1:p.Val511AspfsTer27 | |
| NM_001354615.1:c.1532_1545delinsA | NP_001341544.1:p.Val511AspfsTer27 | |
| NM_001354616.1:c.1532_1545delinsA | NP_001341545.1:p.Val511AspfsTer27 | |
| NM_001354617.1:c.1532_1545delinsA | NP_001341546.1:p.Val511AspfsTer27 | |
| NM_001354618.1:c.1532_1545delinsA | NP_001341547.1:p.Val511AspfsTer27 | |
| NM_001354619.1:c.1532_1545delinsA | NP_001341548.1:p.Val511AspfsTer27 | |
| NM_001354620.1:c.1961_1974delinsA | NP_001341549.1:p.Val654AspfsTer27 | |
| NM_001354621.1:c.1232_1245delinsA | NP_001341550.1:p.Val411AspfsTer27 | |
| NM_001354622.1:c.1232_1245delinsA | NP_001341551.1:p.Val411AspfsTer27 | |
| NM_001354623.1:c.1232_1245delinsA | NP_001341552.1:p.Val411AspfsTer27 | |
| NM_001354624.1:c.1181_1194delinsA | NP_001341553.1:p.Val394AspfsTer27 | |
| NM_001354625.1:c.1181_1194delinsA | NP_001341554.1:p.Val394AspfsTer27 | |
| NM_001354626.1:c.1181_1194delinsA | NP_001341555.1:p.Val394AspfsTer27 | |
| NM_001354627.1:c.1181_1194delinsA | NP_001341556.1:p.Val394AspfsTer27 | |
| NM_001354628.1:c.2162_2175delinsA | NP_001341557.1:p.Val721AspfsTer27 | |
| NM_001354629.1:c.2156_2169delinsA | NP_001341558.1:p.Val719AspfsTer27 | |
| NM_001354630.1:c.2090_2103delinsA | NP_001341559.1:p.Val697AspfsTer27 | |
| XM_005265161.2:c.2048_2061delinsA | XP_005265218.1:p.Val683AspfsTer27 | |
| XM_017006450.2:c.1232_1245delinsA | XP_016861939.1:p.Val411AspfsTer27 | |
| NM_000249.4:c.2255_2268delinsA MANE Select | NP_000240.1:p.Val752AspfsTer27 | |
| NM_001167617.3:c.1961_1974delinsA | NP_001161089.1:p.Val654AspfsTer27 | |
| NM_001167618.3:c.1532_1545delinsA | NP_001161090.1:p.Val511AspfsTer27 | |
| NM_001167619.3:c.1532_1545delinsA | NP_001161091.1:p.Val511AspfsTer27 | |
| NM_001258271.2:c.2048_2061delinsA | NP_001245200.1:p.Val683AspfsTer27 | |
| NM_001258273.2:c.1532_1545delinsA | NP_001245202.1:p.Val511AspfsTer27 | |
| NM_001258274.3:c.1532_1545delinsA | NP_001245203.1:p.Val511AspfsTer27 | |
| NM_001354615.2:c.1532_1545delinsA | NP_001341544.1:p.Val511AspfsTer27 | |
| NM_001354616.2:c.1532_1545delinsA | NP_001341545.1:p.Val511AspfsTer27 | |
| NM_001354617.2:c.1532_1545delinsA | NP_001341546.1:p.Val511AspfsTer27 | |
| NM_001354618.2:c.1532_1545delinsA | NP_001341547.1:p.Val511AspfsTer27 | |
| NM_001354619.2:c.1532_1545delinsA | NP_001341548.1:p.Val511AspfsTer27 | |
| NM_001354620.2:c.1961_1974delinsA | NP_001341549.1:p.Val654AspfsTer27 | |
| NM_001354621.2:c.1232_1245delinsA | NP_001341550.1:p.Val411AspfsTer27 | |
| NM_001354622.2:c.1232_1245delinsA | NP_001341551.1:p.Val411AspfsTer27 | |
| NM_001354623.2:c.1232_1245delinsA | NP_001341552.1:p.Val411AspfsTer27 | |
| NM_001354624.2:c.1181_1194delinsA | NP_001341553.1:p.Val394AspfsTer27 | |
| NM_001354625.2:c.1181_1194delinsA | NP_001341554.1:p.Val394AspfsTer27 | |
| NM_001354626.2:c.1181_1194delinsA | NP_001341555.1:p.Val394AspfsTer27 | |
| NM_001354627.2:c.1181_1194delinsA | NP_001341556.1:p.Val394AspfsTer27 | |
| NM_001354628.2:c.2162_2175delinsA | NP_001341557.1:p.Val721AspfsTer27 | |
| NM_001354629.2:c.2156_2169delinsA | NP_001341558.1:p.Val719AspfsTer27 | |
| NM_001354630.2:c.2090_2103delinsA | NP_001341559.1:p.Val697AspfsTer27 |