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_000002.12:g.39023046_39023047insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCAT , CM000664.2:g.39023046_39023047insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCAT | GRCh38 |
| NC_000002.11:g.39250187_39250188insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCAT , CM000664.1:g.39250187_39250188insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCAT | GRCh37 |
| NC_000002.10:g.39103691_39103692insCGGCGATGACCGCATGGCGCAACAACAAGCCATGATGCAGCTTTACAAAGACGAGAAAATCAATCCGCTGGGCGGCTGTCTGCCTATGCTGTTGCAAATCCCCGTCTTCATCGGTCTGTACTGGGCAT | NCBI36 |
| NG_007530.1:g.102417_102418insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG , LRG_754:g.102417_102418insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1261_1262insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ||
| ENST00000685279.1:c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000509424.1:p.Ile50AsnfsTer29 | |
| ENST00000688043.1:n.1602_1603insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ||
| ENST00000689668.1:n.1388_1389insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ||
| ENST00000690876.1:c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000508955.1:p.Ile424AsnfsTer29 | |
| ENST00000691229.1:c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000510437.1:p.Ile424AsnfsTer29 | |
| ENST00000692089.1:c.1270_1271insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000508626.1:p.Ile424AsnfsTer29 | |
| ENST00000692620.1:c.148_149insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000509311.1:p.Ile50AsnfsTer29 | |
| ENST00000402219.8:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG MANE Select | ENSP00000384675.2:p.Ile461AsnfsTer29 | |
| ENST00000395038.6:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000378479.2:p.Ile461AsnfsTer29 | |
| ENST00000402219.6:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000384675.2:p.Ile461AsnfsTer29 | |
| ENST00000426016.5:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ENSP00000387784.1:p.Ile461AsnfsTer29 | |
| ENST00000472480.1:n.225_226insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | ||
| NM_005633.3:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG , LRG_754t1:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | NP_005624.2:p.Ile461AsnfsTer29 | |
| XM_005264515.3:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_005264572.1:p.Ile461AsnfsTer29 | |
| XM_011533060.1:c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531362.1:p.Ile492AsnfsTer29 | |
| XM_011533061.1:c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531363.1:p.Ile492AsnfsTer29 | |
| XM_011533062.1:c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531364.1:p.Ile454AsnfsTer29 | |
| XM_011533063.1:c.1357_1358insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531365.1:p.Ile453AsnfsTer29 | |
| XM_011533064.1:c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531366.1:p.Ile404AsnfsTer29 | |
| XM_011533065.1:c.1474_1475insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531367.1:p.Ile492AsnfsTer29 | |
| XM_011533066.1:c.316_317insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531368.1:p.Ile106AsnfsTer29 | |
| XM_005264515.4:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_005264572.1:p.Ile461AsnfsTer29 | |
| XM_011533062.2:c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531364.1:p.Ile454AsnfsTer29 | |
| XM_011533064.2:c.1210_1211insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | XP_011531366.1:p.Ile404AsnfsTer29 | |
| NM_001382394.1:c.1360_1361insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | NP_001369323.1:p.Ile454AsnfsTer29 | |
| NM_001382395.1:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG | NP_001369324.1:p.Ile461AsnfsTer29 | |
| NM_005633.4:c.1381_1382insATGCCCAGTACAGACCGATGAAGACGGGGATTTGCAACAGCATAGGCAGACAGCCGCCCAGCGGATTGATTTTCTCGTCTTTGTAAAGCTGCATCATGGCTTGTTGTTGCGCCATGCGGTCATCGCCG MANE Select | NP_005624.2:p.Ile461AsnfsTer29 |