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_000021.9:g.43063122_43063123insACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCAGCTTCAGGGCTCAAGGCCAGCAAAAGCCCC , CM000683.2:g.43063122_43063123insACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCAGCTTCAGGGCTCAAGGCCAGCAAAAGCCCC | GRCh38 |
| NG_008938.1:g.17838_17839insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC , LRG_777:g.17838_17839insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC MANE Select | ENSP00000381231.4:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGT... | |
| ENST00000352178.9:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ENSP00000344460.5:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGT... | |
| ENST00000359624.7:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ENSP00000352643.3:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGT... | |
| ENST00000398158.5:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ENSP00000381225.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGT... | |
| ENST00000398165.7:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ENSP00000381231.3:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGT... | |
| ENST00000461686.5:n.1140-15_1140-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| ENST00000486098.1:n.156_157insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| ENST00000496485.1:n.329-15_329-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| NM_000071.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC , LRG_777t1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_000062.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCA... | |
| NM_001178008.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171479.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001178009.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171480.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529773.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528075.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529774.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528076.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529775.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528077.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529776.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528078.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529777.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528079.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529778.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528080.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529779.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528081.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529781.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528083.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529782.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528084.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529783.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528085.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529784.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528086.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001178008.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171479.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001178009.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171480.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001320298.1:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001307227.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001321072.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001308001.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529774.2:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528076.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529777.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528079.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_011529783.2:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_011528085.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_017028491.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_016883980.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_024452136.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_024307904.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_024452137.1:c.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_024307905.1:n.880-15_880-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_024452138.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_024307906.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_024452139.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_024307907.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XM_024452140.1:c.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | XP_024307908.1:n.514-15_514-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| XR_001754915.1:n.1200-15_1200-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| XR_001754916.2:n.979-15_979-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| XR_001754917.2:n.979-15_979-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| XR_002958634.1:n.1785_1786insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | ||
| NM_000071.3:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC MANE Select | NP_000062.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCA... | |
| NM_001178009.3:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171480.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001178008.3:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001171479.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... | |
| NM_001320298.2:c.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGC | NP_001307227.1:n.829-15_829-14insTGCGCCCTCTGCAGATCACTGGGGTGGA... |