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.43092454_43092455insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT , CM000679.2:g.43092454_43092455insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | GRCh38 |
| NC_000017.10:g.41244471_41244472insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT , CM000679.1:g.41244471_41244472insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | GRCh37 |
| NC_000017.9:g.38497997_38497998insGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCCT | NCBI36 |
| NG_005905.2:g.125529_125530insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC , LRG_292:g.125529_125530insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3140_3141insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ||
| ENST00000461574.2:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000417241.2:p.Ile1026LysfsTer27 | |
| ENST00000470026.6:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000419274.2:p.Ile1026LysfsTer27 | |
| ENST00000473961.6:c.2950_2951insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000420201.2:p.Ile984LysfsTer27 | |
| ENST00000476777.6:c.3073_3074insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000417554.2:p.Ile1025LysfsTer27 | |
| ENST00000477152.6:c.2998_2999insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000419988.2:p.Ile1000LysfsTer27 | |
| ENST00000478531.6:c.785-1423_785-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000420412.2:n.785-1423_785-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000489037.2:c.2998_2999insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000420781.2:p.Ile1000LysfsTer27 | |
| ENST00000493919.6:c.647-1423_647-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418819.2:n.647-1423_647-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000494123.6:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000419103.2:p.Ile1026LysfsTer27 | |
| ENST00000497488.2:c.2188_2189insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418986.2:p.Ile730LysfsTer27 | |
| ENST00000618469.2:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000478114.2:p.Ile1026LysfsTer27 | |
| ENST00000634433.2:c.2953_2954insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000489431.2:p.Ile985LysfsTer27 | |
| ENST00000644379.2:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000496570.2:p.Ile1026LysfsTer27 | |
| ENST00000644555.2:c.647-1423_647-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000494614.2:n.647-1423_647-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000652672.2:c.2935_2936insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000498906.2:p.Ile979LysfsTer27 | |
| ENST00000484087.6:c.665-1423_665-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000419481.2:n.665-1423_665-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000700182.1:c.707-1423_707-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000514849.1:n.707-1423_707-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000357654.9:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC MANE Select | ENSP00000350283.3:p.Ile1026LysfsTer27 | |
| ENST00000471181.7:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418960.2:p.Ile1026LysfsTer27 | |
| ENST00000352993.7:c.671-1423_671-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000312236.5:n.671-1423_671-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000354071.7:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000326002.7:p.Ile1026LysfsTer27 | |
| ENST00000357654.7:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000350283.3:p.Ile1026LysfsTer27 | |
| ENST00000461221.5:c.*2859_*2860insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418548.1:n.*2859_*2860insAGGAAAACTTTGAGGAACATTCAATGT... | |
| ENST00000468300.5:c.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000417148.1:n.788-1423_788-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000471181.6:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418960.2:p.Ile1026LysfsTer27 | |
| ENST00000478531.5:c.785-1423_785-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000420412.1:n.785-1423_785-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000484087.5:c.410-1423_410-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000419481.1:n.410-1423_410-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000487825.5:c.413-1423_413-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418212.1:n.413-1423_413-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000491747.6:c.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000420705.2:n.788-1423_788-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000493795.5:c.2935_2936insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418775.1:p.Ile979LysfsTer27 | |
| ENST00000493919.5:c.647-1423_647-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000418819.1:n.647-1423_647-1422insAGGAAAACTTTGAGGAACATT... | |
| ENST00000586385.5:c.5-28504_5-28503insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000465818.1:n.5-28504_5-28503insAGGAAAACTTTGAGGAACATTCA... | |
| ENST00000591534.5:c.-43-17934_-43-17933insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000467329.1:n.-43-17934_-43-17933insAGGAAAACTTTGAGGAACA... | |
| ENST00000591849.5:c.-99+32816_-99+32817insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ENSP00000465347.1:n.-99+32816_-99+32817insAGGAAAACTTTGAGGAACA... | |
| NM_007294.3:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC , LRG_292t1:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009225.1:p.Ile1026LysfsTer27 | |
| NM_007297.3:c.2935_2936insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009228.2:p.Ile979LysfsTer27 | |
| NM_007298.3:c.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009229.2:n.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGT... | |
| NM_007299.3:c.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009230.2:n.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGT... | |
| NM_007300.3:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009231.2:p.Ile1026LysfsTer27 | |
| NR_027676.1:n.3212_3213insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | ||
| NM_007294.4:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC MANE Select | NP_009225.1:p.Ile1026LysfsTer27 | |
| NM_007297.4:c.2935_2936insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009228.2:p.Ile979LysfsTer27 | |
| NM_007299.4:c.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009230.2:n.788-1423_788-1422insAGGAAAACTTTGAGGAACATTCAATGT... | |
| NM_007300.4:c.3076_3077insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC | NP_009231.2:p.Ile1026LysfsTer27 | |
| NR_027676.2:n.3253_3254insAGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCAC |