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_000006.12:g.87518809_87518841delinsGGAGTCTTAACAGACCTGAATAATGAGTGCTGC , CM000668.2:g.87518809_87518841delinsGGAGTCTTAACAGACCTGAATAATGAGTGCTGC | GRCh38 |
| NC_000006.11:g.88228527_88228559delinsGGAGTCTTAACAGACCTGAATAATGAGTGCTGC , CM000668.1:g.88228527_88228559delinsGGAGTCTTAACAGACCTGAATAATGAGTGCTGC | GRCh37 |
| NC_000006.10:g.88285246_88285278delinsGGAGTCTTAACAGACCTGAATAATGAGTGCTGC | NCBI36 |
| NG_008601.1:g.76177_76209delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000493269.2:n.1308_1325+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000497828.2:n.3483_3500+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000684790.1:c.*294_*311+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685069.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685219.1:n.1324_1341+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685336.1:c.*711_*728+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685376.1:c.*410_*427+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685408.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685701.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000685881.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686142.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686154.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686196.1:n.1533_1550+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686284.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686371.1:n.790_807+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686407.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686857.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000686988.1:c.1386_1403+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687090.1:n.1653_1670+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687437.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687579.1:c.*334_*351+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687586.1:c.211_228+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687729.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000687909.1:c.*698_*715+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000688106.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000688391.1:n.1796_1813+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000688532.1:c.211_228+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000688808.1:n.1794_1811+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000688842.1:n.3762_3779+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000689174.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000689206.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000689561.1:n.2220_2252delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000689594.1:n.2280_2297+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000689952.1:c.*626_*643+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000690205.1:c.*1166_*1183+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000690622.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000690705.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000690884.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691205.1:n.2254_2271+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691238.1:c.*410_*427+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691533.1:n.1324_1341+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691634.1:n.1169_1186+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691725.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000691815.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000692270.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000692394.1:c.67_84+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000692684.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000692843.1:c.*275_*292+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000693327.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000693431.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000693605.1:c.*204_*221+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000369536.10:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000369536.9:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| ENST00000497828.1:n.391_408+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_020320.3:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_005248735.3:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_005248736.3:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_005248737.3:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535947.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535948.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535949.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535950.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535951.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535952.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535953.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535954.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535955.1:c.349_366+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XR_241848.1:n.1344_1361+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001318785.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350505.1:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350506.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350507.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350508.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350509.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350510.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350511.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_020320.4:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_134857.1:n.1359_1376+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146738.1:n.1631_1648+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146739.1:n.1440_1457+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146740.1:n.1708_1725+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146741.1:n.1370_1387+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146742.1:n.1742_1759+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146743.1:n.1580_1597+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146744.1:n.1708_1725+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146745.1:n.1367_1384+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146746.1:n.1802_1819+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146747.1:n.1146_1163+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146748.1:n.1606_1623+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146749.1:n.1580_1597+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146750.1:n.1704_1721+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146751.1:n.1584_1601+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146752.1:n.1648_1665+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146753.1:n.1500_1517+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146754.1:n.1444_1461+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146755.1:n.1708_1725+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146756.1:n.1363_1380+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146757.1:n.1634_1651+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146758.1:n.1363_1380+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146759.1:n.1363_1380+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_011535949.3:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011073.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011074.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011075.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011076.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011077.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_017011078.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| XM_024446494.1:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_020320.5:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001318785.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350505.2:c.1288_1305+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350506.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350507.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350508.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350509.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350510.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NM_001350511.2:c.763_780+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_134857.2:n.1314_1331+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146738.2:n.1586_1603+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146739.2:n.1395_1412+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146740.2:n.1663_1680+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146741.2:n.1325_1342+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146742.2:n.1697_1714+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146743.2:n.1535_1552+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146744.2:n.1663_1680+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146745.2:n.1322_1339+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146746.2:n.1757_1774+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146747.2:n.1101_1118+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146748.2:n.1561_1578+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146749.2:n.1535_1552+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146750.2:n.1659_1676+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146751.2:n.1539_1556+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146752.2:n.1603_1620+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146753.2:n.1455_1472+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146754.2:n.1399_1416+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146755.2:n.1663_1680+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146756.2:n.1318_1335+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146757.2:n.1589_1606+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146758.2:n.1318_1335+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC | ||
| NR_146759.2:n.1318_1335+15delinsGCAGCACTCATTATTCAGGTCTGTTAAGACTCC |