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.177047509_177047510insCTGGTTCCTATGATGGGTTTGCCAGAATATGG , CM000665.2:g.177047509_177047510insCTGGTTCCTATGATGGGTTTGCCAGAATATGG | GRCh38 |
| NC_000003.11:g.176765297_176765298insCTGGTTCCTATGATGGGTTTGCCAGAATATGG , CM000665.1:g.176765297_176765298insCTGGTTCCTATGATGGGTTTGCCAGAATATGG | GRCh37 |
| NC_000003.10:g.178247991_178247992insCTGGTTCCTATGATGGGTTTGCCAGAATATGG | NCBI36 |
| NG_047195.1:g.154751_154752insCCATATTCTGGCAAACCCATCATAGGAACCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422066.6:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000398477.2:p.Phe248SerfsTer26 | |
| ENST00000431421.6:c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000402402.2:p.Phe161SerfsTer26 | |
| ENST00000704383.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000515885.1:p.Phe248SerfsTer26 | |
| ENST00000704384.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000515886.1:p.Phe248SerfsTer26 | |
| ENST00000704385.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000515887.1:p.Phe248SerfsTer26 | |
| ENST00000352800.10:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000263964.11:p.Phe248SerfsTer26 | |
| ENST00000422442.6:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000387849.3:p.Phe248SerfsTer26 | |
| ENST00000457928.7:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) MANE Select | ENSP00000413251.3:p.Phe248SerfsTer26 | |
| ENST00000637659.1:c.347_348insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ||
| ENST00000673974.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000501274.1:p.Phe248SerfsTer26 | |
| ENST00000430069.5:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000405574.1:p.Phe248SerfsTer26 | |
| ENST00000457928.6:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000413251.2:p.Phe248SerfsTer26 | |
| ENST00000631253.2:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | ENSP00000486324.1:p.Phe248SerfsTer26 | |
| NM_024665.4:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_078941.2:p.Phe248SerfsTer26 | |
| XM_005247771.2:c.772_773insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_005247828.1:p.Phe258SerfsTer26 | |
| XM_005247772.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_005247829.1:p.Phe248SerfsTer26 | |
| XM_005247775.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_005247832.1:p.Phe248SerfsTer26 | |
| XM_005247776.1:c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_005247833.1:p.Phe161SerfsTer26 | |
| XM_006713745.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_006713808.1:p.Phe248SerfsTer26 | |
| XM_006713746.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_006713809.1:p.Phe248SerfsTer26 | |
| XM_011513140.1:c.781_782insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511442.1:p.Phe261SerfsTer26 | |
| XM_011513141.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511443.1:p.Phe248SerfsTer26 | |
| XM_011513142.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511444.1:p.Phe248SerfsTer26 | |
| XM_011513143.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511445.1:p.Phe248SerfsTer26 | |
| NM_001321193.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308122.1:p.Phe248SerfsTer26 | |
| NM_001321194.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308123.1:p.Phe248SerfsTer26 | |
| NM_001321195.1:c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308124.1:p.Phe161SerfsTer26 | |
| NM_024665.5:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_078941.2:p.Phe248SerfsTer26 | |
| XM_005247775.2:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_005247832.1:p.Phe248SerfsTer26 | |
| XM_011513142.2:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511444.1:p.Phe248SerfsTer26 | |
| XM_011513143.2:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_011511445.1:p.Phe248SerfsTer26 | |
| XM_017007185.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_016862674.1:p.Phe248SerfsTer26 | |
| XM_024453751.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_024309519.1:p.Phe248SerfsTer26 | |
| XM_024453752.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | XP_024309520.1:p.Phe248SerfsTer26 | |
| NM_001321193.3:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308122.1:p.Phe248SerfsTer26 | |
| NM_001321194.3:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308123.1:p.Phe248SerfsTer26 | |
| NM_001321195.3:c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001308124.1:p.Phe161SerfsTer26 | |
| NM_001374327.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001361256.1:p.Phe248SerfsTer26 | |
| NM_001374328.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001361257.1:p.Phe248SerfsTer26 | |
| NM_001374329.1:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001361258.1:p.Phe248SerfsTer26 | |
| NM_001374330.1:c.481_482insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) | NP_001361259.1:p.Phe161SerfsTer26 | |
| NM_024665.7:c.742_743insCCATATTCTGGCAAACCCATCATAGGAACCAG (TBL1XR1) MANE Select | NP_078941.2:p.Phe248SerfsTer26 | |
| NR_174966.1:n.518-125_518-124insCTGGTTCCTATGATGGGTTTGCCAGAATATGG (TBL1XR1-AS1) |