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_000017.11:g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA , CM000679.2:g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | GRCh38 |
| NC_000017.10:g.41246332_41246373delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA , CM000679.1:g.41246332_41246373delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | GRCh37 |
| NC_000017.9:g.38499858_38499899delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA | NCBI36 |
| NG_005905.2:g.123628_123669delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA , LRG_292:g.123628_123669delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1239_1280delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ||
| ENST00000461574.2:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000417241.2:p.Leu392= | |
| ENST00000470026.6:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419274.2:p.Leu392= | |
| ENST00000473961.6:c.1049_1090delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420201.2:p.Leu350= | |
| ENST00000476777.6:c.1172_1213delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000417554.2:p.Leu391= | |
| ENST00000477152.6:c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419988.2:p.Leu366= | |
| ENST00000478531.6:c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420412.2:n.784+388_784+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000489037.2:c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420781.2:p.Leu366= | |
| ENST00000493919.6:c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418819.2:n.646+388_646+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000494123.6:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419103.2:p.Leu392= | |
| ENST00000497488.2:c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418986.2:p.Leu96= | |
| ENST00000618469.2:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000478114.2:p.Leu392= | |
| ENST00000634433.2:c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000489431.2:p.Leu351= | |
| ENST00000644379.2:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000496570.2:p.Leu392= | |
| ENST00000644555.2:c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000494614.2:n.646+388_646+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000652672.2:c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000498906.2:p.Leu345= | |
| ENST00000484087.6:c.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419481.2:n.664+388_664+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000700182.1:c.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000514849.1:n.706+388_706+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000700183.1:c.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000514850.1:n.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATG... | |
| ENST00000357654.9:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA MANE Select | ENSP00000350283.3:p.Leu392= | |
| ENST00000471181.7:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418960.2:p.Leu392= | |
| ENST00000652672.1:c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000498906.1:p.Leu345= | |
| ENST00000352993.7:c.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000312236.5:n.670+1490_670+1531delinsTGTTAGGTTCTGATGACT... | |
| ENST00000354071.7:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000326002.7:p.Leu392= | |
| ENST00000357654.7:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000350283.3:p.Leu392= | |
| ENST00000412061.3:c.526_567delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ||
| ENST00000461221.5:c.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418548.1:n.*958_*999delinsTGTTAGGTTCTGATGACTCACATGAT... | |
| ENST00000468300.5:c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000417148.1:n.787+388_787+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000470026.5:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419274.1:p.Leu392= | |
| ENST00000471181.6:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418960.2:p.Leu392= | |
| ENST00000473961.5:c.772_813delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ||
| ENST00000477152.5:c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419988.1:p.Leu366= | |
| ENST00000478531.5:c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420412.1:n.784+388_784+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000484087.5:c.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419481.1:n.409+388_409+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000487825.5:c.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418212.1:n.412+388_412+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000491747.6:c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420705.2:n.787+388_787+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000492859.5:c.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000420253.1:n.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATG... | |
| ENST00000493795.5:c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418775.1:p.Leu345= | |
| ENST00000493919.5:c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418819.1:n.646+388_646+429delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000494123.5:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000419103.1:p.Leu392= | |
| ENST00000497488.1:c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000418986.1:p.Leu96= | |
| ENST00000586385.5:c.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000465818.1:n.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCA... | |
| ENST00000591534.5:c.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000467329.1:n.-43-19835_-43-19794delinsTGTTAGGTTCTGATGA... | |
| ENST00000591849.5:c.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000465347.1:n.-99+30915_-99+30956delinsTGTTAGGTTCTGATGA... | |
| ENST00000634433.1:c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ENSP00000489431.1:p.Leu351= | |
| NM_007294.3:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA , LRG_292t1:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009225.1:p.Leu392= | |
| NM_007297.3:c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009228.2:p.Leu345= | |
| NM_007298.3:c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009229.2:n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGAT... | |
| NM_007299.3:c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009230.2:n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGAT... | |
| NM_007300.3:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009231.2:p.Leu392= | |
| NR_027676.1:n.1311_1352delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | ||
| NM_007294.4:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA MANE Select | NP_009225.1:p.Leu392= | |
| NM_007297.4:c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009228.2:p.Leu345= | |
| NM_007299.4:c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009230.2:n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGAT... | |
| NM_007300.4:c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA | NP_009231.2:p.Leu392= | |
| NR_027676.2:n.1352_1393delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA |