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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092455_43092456insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT , CM000679.2:g.43092455_43092456insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | GRCh38 |
| NC_000017.10:g.41244472_41244473insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT , CM000679.1:g.41244472_41244473insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | GRCh37 |
| NC_000017.9:g.38497998_38497999insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | NCBI36 |
| NG_005905.2:g.125529_125530insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA , LRG_292:g.125529_125530insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3140_3141insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ||
| ENST00000461574.2:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000417241.2:p.Ile1026ArgfsTer24 | |
| ENST00000470026.6:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000419274.2:p.Ile1026ArgfsTer24 | |
| ENST00000473961.6:c.2950_2951insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000420201.2:p.Ile984ArgfsTer24 | |
| ENST00000476777.6:c.3073_3074insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000417554.2:p.Ile1025ArgfsTer24 | |
| ENST00000477152.6:c.2998_2999insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000419988.2:p.Ile1000ArgfsTer24 | |
| ENST00000478531.6:c.785-1423_785-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000420412.2:n.785-1423_785-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000489037.2:c.2998_2999insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000420781.2:p.Ile1000ArgfsTer24 | |
| ENST00000493919.6:c.647-1423_647-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418819.2:n.647-1423_647-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000494123.6:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000419103.2:p.Ile1026ArgfsTer24 | |
| ENST00000497488.2:c.2188_2189insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418986.2:p.Ile730ArgfsTer24 | |
| ENST00000618469.2:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000478114.2:p.Ile1026ArgfsTer24 | |
| ENST00000634433.2:c.2953_2954insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000489431.2:p.Ile985ArgfsTer24 | |
| ENST00000644379.2:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000496570.2:p.Ile1026ArgfsTer24 | |
| ENST00000644555.2:c.647-1423_647-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000494614.2:n.647-1423_647-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000652672.2:c.2935_2936insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000498906.2:p.Ile979ArgfsTer24 | |
| ENST00000484087.6:c.665-1423_665-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000419481.2:n.665-1423_665-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000700182.1:c.707-1423_707-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000514849.1:n.707-1423_707-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000357654.9:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA MANE Select | ENSP00000350283.3:p.Ile1026ArgfsTer24 | |
| ENST00000471181.7:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418960.2:p.Ile1026ArgfsTer24 | |
| ENST00000352993.7:c.671-1423_671-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000312236.5:n.671-1423_671-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000354071.7:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000326002.7:p.Ile1026ArgfsTer24 | |
| ENST00000357654.7:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000350283.3:p.Ile1026ArgfsTer24 | |
| ENST00000461221.5:c.*2859_*2860insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418548.1:n.*2859_*2860insGGAAAACTTTGAGGAACATTCAATGTC... | |
| ENST00000468300.5:c.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000417148.1:n.788-1423_788-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000471181.6:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418960.2:p.Ile1026ArgfsTer24 | |
| ENST00000478531.5:c.785-1423_785-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000420412.1:n.785-1423_785-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000484087.5:c.410-1423_410-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000419481.1:n.410-1423_410-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000487825.5:c.413-1423_413-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418212.1:n.413-1423_413-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000491747.6:c.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000420705.2:n.788-1423_788-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000493795.5:c.2935_2936insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418775.1:p.Ile979ArgfsTer24 | |
| ENST00000493919.5:c.647-1423_647-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000418819.1:n.647-1423_647-1422insGGAAAACTTTGAGGAACATTC... | |
| ENST00000586385.5:c.5-28504_5-28503insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000465818.1:n.5-28504_5-28503insGGAAAACTTTGAGGAACATTCAA... | |
| ENST00000591534.5:c.-43-17934_-43-17933insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000467329.1:n.-43-17934_-43-17933insGGAAAACTTTGAGGAACAT... | |
| ENST00000591849.5:c.-99+32816_-99+32817insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ENSP00000465347.1:n.-99+32816_-99+32817insGGAAAACTTTGAGGAACAT... | |
| NM_007294.3:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA , LRG_292t1:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009225.1:p.Ile1026ArgfsTer24 | |
| NM_007297.3:c.2935_2936insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009228.2:p.Ile979ArgfsTer24 | |
| NM_007298.3:c.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009229.2:n.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTC... | |
| NM_007299.3:c.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009230.2:n.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTC... | |
| NM_007300.3:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009231.2:p.Ile1026ArgfsTer24 | |
| NR_027676.1:n.3212_3213insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | ||
| NM_007294.4:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA MANE Select | NP_009225.1:p.Ile1026ArgfsTer24 | |
| NM_007297.4:c.2935_2936insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009228.2:p.Ile979ArgfsTer24 | |
| NM_007299.4:c.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009230.2:n.788-1423_788-1422insGGAAAACTTTGAGGAACATTCAATGTC... | |
| NM_007300.4:c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA | NP_009231.2:p.Ile1026ArgfsTer24 | |
| NR_027676.2:n.3253_3254insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA |