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_000001.11:g.46189477_46189481delinsCCCCC , CM000663.2:g.46189477_46189481delinsCCCCC | GRCh38 |
| NC_000001.10:g.46655149_46655153delinsCCCCC , CM000663.1:g.46655149_46655153delinsCCCCC | GRCh37 |
| NC_000001.9:g.46427736_46427740delinsCCCCC | NCBI36 |
| NG_009205.2:g.35825_35829delinsGGGGG | |
| NG_009205.3:g.35825_35829delinsGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396420.8:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000379698.4:p.Val624= | |
| ENST00000497439.6:n.2044_2048delinsGGGGG (POMGNT1) | ||
| ENST00000684817.1:n.2232_2236delinsGGGGG (POMGNT1) | ||
| ENST00000684898.1:n.2434_2438delinsGGGGG (POMGNT1) | ||
| ENST00000685230.1:c.*1182_*1186delinsGGGGG (POMGNT1) | ENSP00000510305.1:n.*1182_*1186delinsGGGGG | |
| ENST00000685275.1:n.2419_2423delinsGGGGG (POMGNT1) | ||
| ENST00000685444.1:c.1773_1777delinsGGGGG (POMGNT1) | ENSP00000510762.1:p.Val591= | |
| ENST00000685704.1:n.2538_2542delinsGGGGG (POMGNT1) | ||
| ENST00000685833.1:n.4265_4269delinsGGGGG (POMGNT1) | ||
| ENST00000686252.1:n.2946_2950delinsGGGGG (POMGNT1) | ||
| ENST00000686379.1:c.*996_*1000delinsGGGGG (POMGNT1) | ENSP00000508913.1:n.*996_*1000delinsGGGGG | |
| ENST00000686724.1:n.3559_3563delinsGGGGG (POMGNT1) | ||
| ENST00000686737.1:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000508736.1:p.Val624= | |
| ENST00000687112.1:n.2738_2742delinsGGGGG (POMGNT1) | ||
| ENST00000687149.1:c.1911_1915delinsGGGGG (POMGNT1) | ENSP00000509745.1:p.Val637= | |
| ENST00000687197.1:c.*812_*816delinsGGGGG (POMGNT1) | ENSP00000510749.1:n.*812_*816delinsGGGGG | |
| ENST00000687235.1:n.3949_3953delinsGGGGG (POMGNT1) | ||
| ENST00000687613.1:n.2512_2516delinsGGGGG (POMGNT1) | ||
| ENST00000687683.1:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000508522.1:p.Val624= | |
| ENST00000688032.1:n.2409_2413delinsGGGGG (POMGNT1) | ||
| ENST00000688596.1:n.2523_2527delinsGGGGG (POMGNT1) | ||
| ENST00000688608.1:c.1773_1777delinsGGGGG (POMGNT1) | ENSP00000508890.1:p.Val591= | |
| ENST00000689031.1:n.2324_2328delinsGGGGG (POMGNT1) | ||
| ENST00000689756.1:c.*1504_*1508delinsGGGGG (POMGNT1) | ENSP00000509023.1:n.*1504_*1508delinsGGGGG | |
| ENST00000690377.1:n.2219_2223delinsGGGGG (POMGNT1) | ||
| ENST00000690678.1:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000508703.1:p.Val624= | |
| ENST00000691185.1:n.343_347delinsGGGGG (POMGNT1) | ||
| ENST00000691209.1:c.*812_*816delinsGGGGG (POMGNT1) | ENSP00000510112.1:n.*812_*816delinsGGGGG | |
| ENST00000691243.1:c.*263_*267delinsGGGGG (POMGNT1) | ENSP00000510654.1:n.*263_*267delinsGGGGG | |
| ENST00000692202.1:n.2447_2451delinsGGGGG (POMGNT1) | ||
| ENST00000692322.1:c.*1659_*1663delinsGGGGG (POMGNT1) | ENSP00000509017.1:n.*1659_*1663delinsGGGGG | |
| ENST00000692369.1:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000508453.1:p.Val624= | |
| ENST00000692599.1:n.3747_3751delinsGGGGG (POMGNT1) | ||
| ENST00000692635.1:c.*747_*751delinsGGGGG (POMGNT1) | ENSP00000508425.1:n.*747_*751delinsGGGGG | |
| ENST00000693168.1:n.3648_3652delinsGGGGG (POMGNT1) | ||
| ENST00000693218.1:c.*433_*437delinsGGGGG (POMGNT1) | ENSP00000510577.1:n.*433_*437delinsGGGGG | |
| ENST00000693223.1:n.2820_2824delinsGGGGG (POMGNT1) | ||
| ENST00000371984.8:c.1872_1876delinsGGGGG (POMGNT1) MANE Select | ENSP00000361052.3:p.Val624= | |
| ENST00000371984.7:c.1872_1876delinsGGGGG (POMGNT1) | ENSP00000361052.3:p.Val624= | |
| ENST00000371992.1:c.1869+3_1869+7delinsGGGGG (POMGNT1) | ENSP00000361060.1:n.1869+3_1869+7delinsGGGGG | |
| ENST00000396420.7:c.*1541_*1545delinsGGGGG (POMGNT1) | ENSP00000379698.3:n.*1541_*1545delinsGGGGG | |
| ENST00000475642.1:n.87_91delinsGGGGG (POMGNT1) | ||
| NM_001243766.1:c.1869+3_1869+7delinsGGGGG (POMGNT1) | NP_001230695.1:n.1869+3_1869+7delinsGGGGG | |
| NM_001290129.1:c.1806_1810delinsGGGGG (POMGNT1) | NP_001277058.1:p.Val602= | |
| NM_001290130.1:c.1443_1447delinsGGGGG (POMGNT1) | NP_001277059.1:p.Val481= | |
| NM_017739.3:c.1872_1876delinsGGGGG (POMGNT1) | NP_060209.3:p.Val624= | |
| XM_005271010.1:c.1872_1876delinsGGGGG (POMGNT1) | XP_005271067.1:p.Val624= | |
| XM_006710755.1:c.1872_1876delinsGGGGG (POMGNT1) | XP_006710818.1:p.Val624= | |
| XM_006710756.1:c.1869+3_1869+7delinsGGGGG (POMGNT1) | XP_006710819.1:n.1869+3_1869+7delinsGGGGG | |
| XM_011540460.1:c.678+4169_678+4173delinsCCCCC (TSPAN1) | XP_011538762.1:n.678+4169_678+4173delinsCCCCC | |
| XM_011540461.1:c.633+4169_633+4173delinsCCCCC (TSPAN1) | XP_011538763.1:n.633+4169_633+4173delinsCCCCC | |
| XM_011541759.1:c.1806_1810delinsGGGGG (POMGNT1) | XP_011540061.1:p.Val602= | |
| XM_011541760.1:c.1806_1810delinsGGGGG (POMGNT1) | XP_011540062.1:p.Val602= | |
| XM_011541761.1:c.780_784delinsGGGGG (POMGNT1) | XP_011540063.1:p.Val260= | |
| XM_011540460.3:c.678+4169_678+4173delinsCCCCC (TSPAN1) | XP_011538762.1:n.678+4169_678+4173delinsCCCCC | |
| XM_011541760.3:c.1806_1810delinsGGGGG (POMGNT1) | XP_011540062.1:p.Val602= | |
| XM_017001690.1:c.1872_1876delinsGGGGG (POMGNT1) | XP_016857179.1:p.Val624= | |
| NM_001243766.2:c.1869+3_1869+7delinsGGGGG (POMGNT1) | NP_001230695.2:n.1869+3_1869+7delinsGGGGG | |
| NM_001290129.2:c.1806_1810delinsGGGGG (POMGNT1) | NP_001277058.2:p.Val602= | |
| NM_001290130.2:c.1443_1447delinsGGGGG (POMGNT1) | NP_001277059.2:p.Val481= | |
| NM_017739.4:c.1872_1876delinsGGGGG (POMGNT1) MANE Select | NP_060209.4:p.Val624= |