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_000019.10:g.11041337_11041338insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT , CM000681.2:g.11041337_11041338insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | GRCh38 |
| NC_000019.9:g.11152013_11152014insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT , CM000681.1:g.11152013_11152014insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | GRCh37 |
| NC_000019.8:g.11013013_11013014insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NCBI36 |
| NG_011556.2:g.85416_85417insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | |
| NG_011556.3:g.85406_85407insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000518564.1:p.Glu1433ValfsTer? | |
| ENST00000704344.1:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000515855.1:p.Glu1401ValfsTer? | |
| ENST00000646693.2:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT MANE Plus Clinical | ENSP00000495368.1:p.Glu1433ValfsTer? | |
| ENST00000344626.10:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT MANE Select | ENSP00000343896.4:p.Glu1401ValfsTer? | |
| ENST00000429416.8:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000395654.1:p.Glu1401ValfsTer? | |
| ENST00000444061.8:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000392837.2:p.Glu1368ValfsTer? | |
| ENST00000538456.4:c.368_369insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000586985.2:c.328_329insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000467796.2:p.Glu110ValfsTer? | |
| ENST00000590574.6:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000466963.1:p.Glu1368ValfsTer? | |
| ENST00000592158.2:c.142_143insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000467200.2:p.Glu48ValfsTer? | |
| ENST00000592604.6:n.2442_2443insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000642350.1:c.2695_2696insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000495355.1:p.Glu899ValfsTer? | |
| ENST00000642508.1:c.1658_1659insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000642628.1:c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000496498.1:p.Glu1400ValfsTer? | |
| ENST00000642726.1:c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000494353.1:p.Glu1400ValfsTer? | |
| ENST00000643208.1:c.2758_2759insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000496074.1:p.Glu920ValfsTer? | |
| ENST00000643296.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000496635.1:p.Glu1371ValfsTer? | |
| ENST00000643534.1:c.2486_2487insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000643549.1:c.4207_4208insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000493975.1:p.Glu1403ValfsTer? | |
| ENST00000643857.1:c.2565_2566insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000643929.1:n.694_695insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000643995.1:c.3624_3625insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000644065.1:c.2838_2839insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000644327.1:c.2873_2874insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000644737.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000495548.1:p.Glu1371ValfsTer? | |
| ENST00000644963.1:c.2855_2856insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000645061.1:c.2689_2690insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000493690.1:p.Glu897ValfsTer? | |
| ENST00000645236.1:c.750_751insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000645460.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000494463.1:p.Glu1368ValfsTer? | |
| ENST00000645648.1:c.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000493521.1:n.2112_2113insTTACCTGCCCGGCGCTGTGGATGCGCACG... | |
| ENST00000646183.1:c.2544_2545insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000646484.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000495536.1:p.Glu1368ValfsTer? | |
| ENST00000646510.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000494772.1:p.Glu1368ValfsTer? | |
| ENST00000646593.1:c.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000494341.1:n.2049_2050insTTACCTGCCCGGCGCTGTGGATGCGCACG... | |
| ENST00000646693.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000495368.1:p.Glu1433ValfsTer? | |
| ENST00000646746.1:c.2501_2502insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000646889.1:n.704_705insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000647230.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000494676.1:p.Glu1368ValfsTer? | |
| ENST00000647268.1:c.2455_2456insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000496176.1:p.Glu819ValfsTer? | |
| ENST00000344626.8:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000343896.4:p.Glu1401ValfsTer? | |
| ENST00000413806.7:c.4303_4304insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000414727.3:p.Glu1435ValfsTer? | |
| ENST00000429416.7:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000395654.1:p.Glu1401ValfsTer? | |
| ENST00000444061.7:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000392837.2:p.Glu1368ValfsTer? | |
| ENST00000450717.7:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000397783.3:p.Glu1433ValfsTer? | |
| ENST00000538456.3:n.515_516insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000541122.6:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000445036.2:p.Glu1371ValfsTer? | |
| ENST00000585799.5:n.2639_2640insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000589677.5:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000464778.1:p.Glu1371ValfsTer? | |
| ENST00000590574.5:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000466963.1:p.Glu1368ValfsTer? | |
| ENST00000591595.5:n.2174_2175insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| ENST00000592158.1:c.280_281insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ENSP00000467200.1:p.Glu94ValfsTer? | |
| ENST00000592604.5:n.2024_2025insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| NM_001128844.1:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122316.1:p.Glu1401ValfsTer? | |
| NM_001128845.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122317.1:p.Glu1371ValfsTer? | |
| NM_001128846.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122318.1:p.Glu1371ValfsTer? | |
| NM_001128847.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122319.1:p.Glu1368ValfsTer? | |
| NM_001128848.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122320.1:p.Glu1368ValfsTer? | |
| NM_001128849.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122321.1:p.Glu1433ValfsTer? | |
| NM_003072.3:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_003063.2:p.Glu1401ValfsTer? | |
| XM_005260028.2:c.4210_4211insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260085.1:p.Glu1404ValfsTer? | |
| XM_005260030.2:c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260087.1:p.Glu1400ValfsTer? | |
| XM_005260031.2:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260088.1:p.Glu1401ValfsTer? | |
| XM_005260032.2:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260089.1:p.Glu1371ValfsTer? | |
| XM_005260033.2:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260090.1:p.Glu1371ValfsTer? | |
| XM_005260034.2:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260091.1:p.Glu1368ValfsTer? | |
| XM_005260035.2:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_005260092.1:p.Glu1368ValfsTer? | |
| XM_006722845.2:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_006722908.1:p.Glu1433ValfsTer? | |
| XM_006722846.2:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_006722909.1:p.Glu1433ValfsTer? | |
| XM_006722847.2:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_006722910.1:p.Glu1433ValfsTer? | |
| XM_011528198.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_011526500.1:p.Glu1433ValfsTer? | |
| XM_024451658.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307426.1:p.Glu1433ValfsTer? | |
| XM_024451659.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307427.1:p.Glu1433ValfsTer? | |
| XM_024451660.1:c.4210_4211insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307428.1:p.Glu1404ValfsTer? | |
| XM_024451661.1:c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307429.1:p.Glu1400ValfsTer? | |
| XM_024451662.1:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307430.1:p.Glu1401ValfsTer? | |
| XM_024451663.1:c.4198_4199insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307431.1:p.Glu1400ValfsTer? | |
| XM_024451664.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307432.1:p.Glu1371ValfsTer? | |
| XM_024451665.1:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307433.1:p.Glu1371ValfsTer? | |
| XM_024451666.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307434.1:p.Glu1368ValfsTer? | |
| XM_024451667.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | XP_024307435.1:p.Glu1368ValfsTer? | |
| NM_001128844.3:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122316.1:p.Glu1401ValfsTer? | |
| NM_001128845.2:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122317.1:p.Glu1371ValfsTer? | |
| NM_001128846.2:c.4111_4112insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122318.1:p.Glu1371ValfsTer? | |
| NM_001128847.4:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122319.1:p.Glu1368ValfsTer? | |
| NM_001128848.2:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122320.1:p.Glu1368ValfsTer? | |
| NM_001128849.3:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001122321.1:p.Glu1433ValfsTer? | |
| NM_001374457.1:c.4102_4103insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | NP_001361386.1:p.Glu1368ValfsTer? | |
| NM_003072.5:c.4201_4202insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT MANE Select | NP_003063.2:p.Glu1401ValfsTer? | |
| NR_164683.1:n.4591_4592insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT | ||
| NM_001387283.1:c.4297_4298insTTACCTGCCCGGCGCTGTGGATGCGCACGCGGTGGATATTGCGAAGATGGCGACCAGTTCCATTACACTCCCGTCAGCCGCTCAGATTAAGGCTGACCGTGAGGCGAAGGGCCTCTGATCT MANE Plus Clinical | NP_001374212.1:p.Glu1433ValfsTer? |