SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092455_43092456insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG , CM000679.2:g.43092455_43092456insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG | GRCh38 |
| NC_000017.10:g.41244472_41244473insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG , CM000679.1:g.41244472_41244473insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG | GRCh37 |
| NC_000017.9:g.38497998_38497999insATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCTGTGCTCACTGTACTTGGAATG | NCBI36 |
| NG_005905.2:g.125528_125529insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT , LRG_292:g.125528_125529insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3139_3140insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ||
| ENST00000461574.2:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000417241.2:p.Ile1026HisfsTer27 | |
| ENST00000470026.6:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000419274.2:p.Ile1026HisfsTer27 | |
| ENST00000473961.6:c.2949_2950insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000420201.2:p.Ile984HisfsTer27 | |
| ENST00000476777.6:c.3072_3073insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000417554.2:p.Ile1025HisfsTer27 | |
| ENST00000477152.6:c.2997_2998insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000419988.2:p.Ile1000HisfsTer27 | |
| ENST00000478531.6:c.785-1424_785-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000420412.2:n.785-1424_785-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000489037.2:c.2997_2998insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000420781.2:p.Ile1000HisfsTer27 | |
| ENST00000493919.6:c.647-1424_647-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418819.2:n.647-1424_647-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000494123.6:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000419103.2:p.Ile1026HisfsTer27 | |
| ENST00000497488.2:c.2187_2188insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418986.2:p.Ile730HisfsTer27 | |
| ENST00000618469.2:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000478114.2:p.Ile1026HisfsTer27 | |
| ENST00000634433.2:c.2952_2953insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000489431.2:p.Ile985HisfsTer27 | |
| ENST00000644379.2:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000496570.2:p.Ile1026HisfsTer27 | |
| ENST00000644555.2:c.647-1424_647-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000494614.2:n.647-1424_647-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000652672.2:c.2934_2935insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000498906.2:p.Ile979HisfsTer27 | |
| ENST00000484087.6:c.665-1424_665-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000419481.2:n.665-1424_665-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000700182.1:c.707-1424_707-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000514849.1:n.707-1424_707-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000357654.9:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT MANE Select | ENSP00000350283.3:p.Ile1026HisfsTer27 | |
| ENST00000471181.7:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418960.2:p.Ile1026HisfsTer27 | |
| ENST00000352993.7:c.671-1424_671-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000312236.5:n.671-1424_671-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000354071.7:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000326002.7:p.Ile1026HisfsTer27 | |
| ENST00000357654.7:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000350283.3:p.Ile1026HisfsTer27 | |
| ENST00000461221.5:c.*2858_*2859insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418548.1:n.*2858_*2859insCATTCCAAGTACAGTGAGCACAGGAAA... | |
| ENST00000468300.5:c.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000417148.1:n.788-1424_788-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000471181.6:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418960.2:p.Ile1026HisfsTer27 | |
| ENST00000478531.5:c.785-1424_785-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000420412.1:n.785-1424_785-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000484087.5:c.410-1424_410-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000419481.1:n.410-1424_410-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000487825.5:c.413-1424_413-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418212.1:n.413-1424_413-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000491747.6:c.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000420705.2:n.788-1424_788-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000493795.5:c.2934_2935insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418775.1:p.Ile979HisfsTer27 | |
| ENST00000493919.5:c.647-1424_647-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000418819.1:n.647-1424_647-1423insCATTCCAAGTACAGTGAGCAC... | |
| ENST00000586385.5:c.5-28505_5-28504insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000465818.1:n.5-28505_5-28504insCATTCCAAGTACAGTGAGCACAG... | |
| ENST00000591534.5:c.-43-17935_-43-17934insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000467329.1:n.-43-17935_-43-17934insCATTCCAAGTACAGTGAGC... | |
| ENST00000591849.5:c.-99+32815_-99+32816insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ENSP00000465347.1:n.-99+32815_-99+32816insCATTCCAAGTACAGTGAGC... | |
| NM_007294.3:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT , LRG_292t1:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009225.1:p.Ile1026HisfsTer27 | |
| NM_007297.3:c.2934_2935insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009228.2:p.Ile979HisfsTer27 | |
| NM_007298.3:c.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009229.2:n.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAA... | |
| NM_007299.3:c.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009230.2:n.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAA... | |
| NM_007300.3:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009231.2:p.Ile1026HisfsTer27 | |
| NR_027676.1:n.3211_3212insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | ||
| NM_007294.4:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT MANE Select | NP_009225.1:p.Ile1026HisfsTer27 | |
| NM_007297.4:c.2934_2935insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009228.2:p.Ile979HisfsTer27 | |
| NM_007299.4:c.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009230.2:n.788-1424_788-1423insCATTCCAAGTACAGTGAGCACAGGAAA... | |
| NM_007300.4:c.3075_3076insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT | NP_009231.2:p.Ile1026HisfsTer27 | |
| NR_027676.2:n.3252_3253insCATTCCAAGTACAGTGAGCACAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGAT |