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_000001.11:g.46190480_46190517delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA , CM000663.2:g.46190480_46190517delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA | GRCh38 |
| NC_000001.10:g.46656152_46656189delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA , CM000663.1:g.46656152_46656189delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA | GRCh37 |
| NC_000001.9:g.46428739_46428776delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA | NCBI36 |
| NG_009205.2:g.34789_34826delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC | |
| NG_009205.3:g.34789_34826delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000379698.4:p.Ser535= | |
| ENST00000477114.2:n.2167_2204delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000497439.6:n.1777_1814delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000684817.1:n.1965_2002delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000684898.1:n.2167_2204delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000685230.1:c.*915_*952delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510305.1:n.*915_*952delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000685275.1:n.2152_2189delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000685444.1:c.1506_1543delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510762.1:p.Ser502= | |
| ENST00000685704.1:n.2271_2308delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000685775.1:n.4647_4684delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000685833.1:n.3998_4035delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000686252.1:n.2679_2716delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000686379.1:c.*729_*766delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508913.1:n.*729_*766delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000686724.1:n.3292_3329delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000686737.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508736.1:p.Ser535= | |
| ENST00000687112.1:n.2471_2508delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000687149.1:c.1644_1681delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000509745.1:p.Ser548= | |
| ENST00000687197.1:c.*545_*582delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510749.1:n.*545_*582delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000687235.1:n.3682_3719delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000687613.1:n.2290-528_2290-491delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000687683.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508522.1:p.Ser535= | |
| ENST00000688032.1:n.2142_2179delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000688596.1:n.2256_2293delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000688608.1:c.1506_1543delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508890.1:p.Ser502= | |
| ENST00000688919.1:n.3003_3040delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000689031.1:n.2102-528_2102-491delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000689717.1:n.1979_2016delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000689756.1:c.*1237_*1274delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000509023.1:n.*1237_*1274delinsTCTGAAGAAAGAAGCTTATGAAGT... | |
| ENST00000690377.1:n.1952_1989delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000690678.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508703.1:p.Ser535= | |
| ENST00000691209.1:c.*545_*582delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510112.1:n.*545_*582delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000691243.1:c.1580_*33delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510654.1:n.[c.1580_*33delinsTCTGAAGAAAGAAGCTTATGAAGT... | |
| ENST00000692169.1:n.3269_3306delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000692202.1:n.2180_2217delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000692322.1:c.*1392_*1429delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000509017.1:n.*1392_*1429delinsTCTGAAGAAAGAAGCTTATGAAGT... | |
| ENST00000692369.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508453.1:p.Ser535= | |
| ENST00000692599.1:n.3480_3517delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000692635.1:c.*480_*517delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000508425.1:n.*480_*517delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000693168.1:n.3381_3418delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000693218.1:c.*166_*203delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000510577.1:n.*166_*203delinsTCTGAAGAAAGAAGCTTATGAAGTGG... | |
| ENST00000693223.1:n.2553_2590delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000693365.1:n.5754_5791delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000371984.8:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) MANE Select | ENSP00000361052.3:p.Ser535= | |
| ENST00000371984.7:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000361052.3:p.Ser535= | |
| ENST00000371992.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000361060.1:p.Ser535= | |
| ENST00000396420.7:c.*1274_*1311delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ENSP00000379698.3:n.*1274_*1311delinsTCTGAAGAAAGAAGCTTATGAAGT... | |
| ENST00000480972.1:n.254_291delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| ENST00000485714.1:n.2506_2543delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | ||
| NM_001243766.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001230695.1:p.Ser535= | |
| NM_001290129.1:c.1539_1576delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001277058.1:p.Ser513= | |
| NM_001290130.1:c.1176_1213delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001277059.1:p.Ser392= | |
| NM_017739.3:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_060209.3:p.Ser535= | |
| XM_005271010.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_005271067.1:p.Ser535= | |
| XM_006710755.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_006710818.1:p.Ser535= | |
| XM_006710756.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_006710819.1:p.Ser535= | |
| XM_011540460.1:c.678+5172_678+5209delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA (TSPAN1) | XP_011538762.1:n.678+5172_678+5209delinsGCCTGTGAACTTCCACTTCAT... | |
| XM_011540461.1:c.633+5172_633+5209delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA (TSPAN1) | XP_011538763.1:n.633+5172_633+5209delinsGCCTGTGAACTTCCACTTCAT... | |
| XM_011541759.1:c.1539_1576delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_011540061.1:p.Ser513= | |
| XM_011541760.1:c.1539_1576delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_011540062.1:p.Ser513= | |
| XM_011541761.1:c.513_550delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_011540063.1:p.Ser171= | |
| XM_011540460.3:c.678+5172_678+5209delinsGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGA (TSPAN1) | XP_011538762.1:n.678+5172_678+5209delinsGCCTGTGAACTTCCACTTCAT... | |
| XM_011541760.3:c.1539_1576delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_011540062.1:p.Ser513= | |
| XM_017001690.1:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | XP_016857179.1:p.Ser535= | |
| NM_001243766.2:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001230695.2:p.Ser535= | |
| NM_001290129.2:c.1539_1576delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001277058.2:p.Ser513= | |
| NM_001290130.2:c.1176_1213delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) | NP_001277059.2:p.Ser392= | |
| NM_017739.4:c.1605_1642delinsTCTGAAGAAAGAAGCTTATGAAGTGGAAGTTCACAGGC (POMGNT1) MANE Select | NP_060209.4:p.Ser535= |