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_000011.10:g.13386143_13386145delinsGAA , CM000673.2:g.13386143_13386145delinsGAA | GRCh38 |
| NC_000011.9:g.13407690_13407692delinsGAA , CM000673.1:g.13407690_13407692delinsGAA | GRCh37 |
| NC_000011.8:g.13364266_13364268delinsGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401424.6:c.1588+352_1588+354delinsGAA | ENSP00000385915.2:n.1588+352_1588+354delinsGAA | |
| ENST00000403290.6:c.1720+352_1720+354delinsGAA MANE Select | ENSP00000384517.1:n.1720+352_1720+354delinsGAA | |
| ENST00000403510.8:c.1720+352_1720+354delinsGAA | ENSP00000385581.4:n.1720+352_1720+354delinsGAA | |
| ENST00000529388.6:c.1720+352_1720+354delinsGAA | ENSP00000433571.2:n.1720+352_1720+354delinsGAA | |
| ENST00000673626.1:c.*1599+352_*1599+354delinsGAA | ENSP00000500988.1:n.*1599+352_*1599+354delinsGAA | |
| ENST00000673817.1:c.1732+352_1732+354delinsGAA | ENSP00000501212.1:n.1732+352_1732+354delinsGAA | |
| ENST00000673834.1:c.*1583+352_*1583+354delinsGAA | ENSP00000500983.1:n.*1583+352_*1583+354delinsGAA | |
| ENST00000673868.1:c.1310+352_1310+354delinsGAA | ||
| ENST00000673888.1:c.*1599+352_*1599+354delinsGAA | ENSP00000501059.1:n.*1599+352_*1599+354delinsGAA | |
| ENST00000673892.1:c.*1596+352_*1596+354delinsGAA | ENSP00000501106.1:n.*1596+352_*1596+354delinsGAA | |
| ENST00000674108.1:c.*1583+352_*1583+354delinsGAA | ENSP00000501035.1:n.*1583+352_*1583+354delinsGAA | |
| ENST00000389707.8:c.1717+352_1717+354delinsGAA | ENSP00000374357.4:n.1717+352_1717+354delinsGAA | |
| ENST00000401424.5:c.1591+352_1591+354delinsGAA | ENSP00000385915.1:n.1591+352_1591+354delinsGAA | |
| ENST00000403290.5:c.1720+352_1720+354delinsGAA | ENSP00000384517.1:n.1720+352_1720+354delinsGAA | |
| ENST00000403482.7:c.1714+352_1714+354delinsGAA | ENSP00000385897.3:n.1714+352_1714+354delinsGAA | |
| ENST00000403510.7:c.1588+352_1588+354delinsGAA | ENSP00000385581.3:n.1588+352_1588+354delinsGAA | |
| ENST00000472842.1:n.3194+352_3194+354delinsGAA | ||
| ENST00000524392.5:c.750+352_750+354delinsGAA | ENSP00000436442.1:n.750+352_750+354delinsGAA | |
| NM_001030272.2:c.1717+352_1717+354delinsGAA | NP_001025443.1:n.1717+352_1717+354delinsGAA | |
| NM_001030273.2:c.1588+352_1588+354delinsGAA | NP_001025444.1:n.1588+352_1588+354delinsGAA | |
| NM_001178.5:c.1717+352_1717+354delinsGAA | NP_001169.3:n.1717+352_1717+354delinsGAA | |
| NM_001297719.1:c.1720+352_1720+354delinsGAA | NP_001284648.1:n.1720+352_1720+354delinsGAA | |
| NM_001297722.1:c.1720+352_1720+354delinsGAA | NP_001284651.1:n.1720+352_1720+354delinsGAA | |
| NM_001297724.1:c.1591+352_1591+354delinsGAA | NP_001284653.1:n.1591+352_1591+354delinsGAA | |
| XM_006718233.2:c.1735+352_1735+354delinsGAA | XP_006718296.1:n.1735+352_1735+354delinsGAA | |
| XM_006718234.1:c.1606+352_1606+354delinsGAA | XP_006718297.1:n.1606+352_1606+354delinsGAA | |
| XM_011520105.1:c.1732+352_1732+354delinsGAA | XP_011518407.1:n.1732+352_1732+354delinsGAA | |
| XM_011520106.1:c.1720+352_1720+354delinsGAA | XP_011518408.1:n.1720+352_1720+354delinsGAA | |
| XM_011520107.1:c.1717+352_1717+354delinsGAA | XP_011518409.1:n.1717+352_1717+354delinsGAA | |
| XM_011520108.1:c.1735+352_1735+354delinsGAA | XP_011518410.1:n.1735+352_1735+354delinsGAA | |
| XM_011520109.1:c.1735+352_1735+354delinsGAA | XP_011518411.1:n.1735+352_1735+354delinsGAA | |
| XM_011520110.1:c.1606+352_1606+354delinsGAA | XP_011518412.1:n.1606+352_1606+354delinsGAA | |
| XM_011520111.1:c.1606+352_1606+354delinsGAA | XP_011518413.1:n.1606+352_1606+354delinsGAA | |
| XM_011520112.1:c.1591+352_1591+354delinsGAA | XP_011518414.1:n.1591+352_1591+354delinsGAA | |
| XM_011520113.1:c.1588+352_1588+354delinsGAA | XP_011518415.1:n.1588+352_1588+354delinsGAA | |
| NM_001351804.1:c.1717+352_1717+354delinsGAA | NP_001338733.1:n.1717+352_1717+354delinsGAA | |
| NM_001351805.1:c.1681+352_1681+354delinsGAA | NP_001338734.1:n.1681+352_1681+354delinsGAA | |
| NM_001351806.1:c.1678+352_1678+354delinsGAA | NP_001338735.1:n.1678+352_1678+354delinsGAA | |
| NM_001351807.1:c.1735+352_1735+354delinsGAA | NP_001338736.1:n.1735+352_1735+354delinsGAA | |
| NM_001351808.1:c.1591+352_1591+354delinsGAA | NP_001338737.1:n.1591+352_1591+354delinsGAA | |
| NM_001351809.1:c.1669+352_1669+354delinsGAA | NP_001338738.1:n.1669+352_1669+354delinsGAA | |
| NM_001351810.1:c.1366+352_1366+354delinsGAA | NP_001338739.1:n.1366+352_1366+354delinsGAA | |
| NM_001351811.1:c.970+352_970+354delinsGAA | NP_001338740.1:n.970+352_970+354delinsGAA | |
| NM_001351812.1:c.1669+352_1669+354delinsGAA | NP_001338741.1:n.1669+352_1669+354delinsGAA | |
| NM_001351813.1:c.1603+352_1603+354delinsGAA | NP_001338742.1:n.1603+352_1603+354delinsGAA | |
| NM_001351814.1:c.1735+352_1735+354delinsGAA | NP_001338743.1:n.1735+352_1735+354delinsGAA | |
| NM_001351815.1:c.1717+352_1717+354delinsGAA | NP_001338744.1:n.1717+352_1717+354delinsGAA | |
| NM_001351816.1:c.1591+352_1591+354delinsGAA | NP_001338745.1:n.1591+352_1591+354delinsGAA | |
| NM_001351817.1:c.1366+352_1366+354delinsGAA | NP_001338746.1:n.1366+352_1366+354delinsGAA | |
| NM_001351818.1:c.1588+352_1588+354delinsGAA | NP_001338747.1:n.1588+352_1588+354delinsGAA | |
| NM_001351819.1:c.1732+352_1732+354delinsGAA | NP_001338748.1:n.1732+352_1732+354delinsGAA | |
| NM_001351820.1:c.1591+352_1591+354delinsGAA | NP_001338749.1:n.1591+352_1591+354delinsGAA | |
| NM_001351821.1:c.1591+352_1591+354delinsGAA | NP_001338750.1:n.1591+352_1591+354delinsGAA | |
| NM_001351822.1:c.1591+352_1591+354delinsGAA | NP_001338751.1:n.1591+352_1591+354delinsGAA | |
| NM_001351823.1:c.1606+352_1606+354delinsGAA | NP_001338752.1:n.1606+352_1606+354delinsGAA | |
| NM_001351824.1:c.1720+352_1720+354delinsGAA | NP_001338753.1:n.1720+352_1720+354delinsGAA | |
| NR_147785.1:n.2219+352_2219+354delinsGAA | ||
| NR_147786.1:n.2216+352_2216+354delinsGAA | ||
| NR_147787.1:n.2369+352_2369+354delinsGAA | ||
| NR_147788.1:n.2271+352_2271+354delinsGAA | ||
| NR_147789.1:n.2437+352_2437+354delinsGAA | ||
| NR_147790.1:n.2290+352_2290+354delinsGAA | ||
| NR_147791.1:n.2287+352_2287+354delinsGAA | ||
| XM_011520105.3:c.1861+352_1861+354delinsGAA | XP_011518407.2:n.1861+352_1861+354delinsGAA | |
| XM_011520107.3:c.1846+352_1846+354delinsGAA | XP_011518409.2:n.1846+352_1846+354delinsGAA | |
| XM_017017738.2:c.1864+352_1864+354delinsGAA | XP_016873227.1:n.1864+352_1864+354delinsGAA | |
| XM_017017739.2:c.1849+352_1849+354delinsGAA | XP_016873228.1:n.1849+352_1849+354delinsGAA | |
| XM_017017741.1:c.1732+352_1732+354delinsGAA | XP_016873230.1:n.1732+352_1732+354delinsGAA | |
| XM_017017744.1:c.1603+352_1603+354delinsGAA | XP_016873233.1:n.1603+352_1603+354delinsGAA | |
| XM_017017748.1:c.1588+352_1588+354delinsGAA | XP_016873237.1:n.1588+352_1588+354delinsGAA | |
| XM_024448522.1:c.1669+352_1669+354delinsGAA | XP_024304290.1:n.1669+352_1669+354delinsGAA | |
| XR_001747876.2:n.2417+352_2417+354delinsGAA | ||
| XR_002957147.1:n.2432+352_2432+354delinsGAA | ||
| NM_001030272.3:c.1717+352_1717+354delinsGAA | NP_001025443.1:n.1717+352_1717+354delinsGAA | |
| NM_001030273.3:c.1588+352_1588+354delinsGAA | NP_001025444.1:n.1588+352_1588+354delinsGAA | |
| NM_001178.6:c.1717+352_1717+354delinsGAA | NP_001169.3:n.1717+352_1717+354delinsGAA | |
| NM_001297719.2:c.1720+352_1720+354delinsGAA MANE Select | NP_001284648.1:n.1720+352_1720+354delinsGAA | |
| NM_001297722.2:c.1720+352_1720+354delinsGAA | NP_001284651.1:n.1720+352_1720+354delinsGAA | |
| NM_001297724.2:c.1591+352_1591+354delinsGAA | NP_001284653.1:n.1591+352_1591+354delinsGAA | |
| NM_001351805.2:c.1681+352_1681+354delinsGAA | NP_001338734.1:n.1681+352_1681+354delinsGAA | |
| NM_001351806.2:c.1678+352_1678+354delinsGAA | NP_001338735.1:n.1678+352_1678+354delinsGAA | |
| NM_001351807.2:c.1735+352_1735+354delinsGAA | NP_001338736.1:n.1735+352_1735+354delinsGAA | |
| NM_001351808.2:c.1591+352_1591+354delinsGAA | NP_001338737.1:n.1591+352_1591+354delinsGAA | |
| NM_001351809.2:c.1669+352_1669+354delinsGAA | NP_001338738.1:n.1669+352_1669+354delinsGAA | |
| NM_001351810.2:c.1366+352_1366+354delinsGAA | NP_001338739.1:n.1366+352_1366+354delinsGAA | |
| NM_001351811.2:c.970+352_970+354delinsGAA | NP_001338740.1:n.970+352_970+354delinsGAA | |
| NM_001351812.2:c.1669+352_1669+354delinsGAA | NP_001338741.1:n.1669+352_1669+354delinsGAA | |
| NM_001351813.2:c.1603+352_1603+354delinsGAA | NP_001338742.1:n.1603+352_1603+354delinsGAA | |
| NM_001351814.2:c.1735+352_1735+354delinsGAA | NP_001338743.1:n.1735+352_1735+354delinsGAA | |
| NM_001351815.2:c.1717+352_1717+354delinsGAA | NP_001338744.1:n.1717+352_1717+354delinsGAA | |
| NM_001351816.2:c.1591+352_1591+354delinsGAA | NP_001338745.1:n.1591+352_1591+354delinsGAA | |
| NM_001351817.2:c.1366+352_1366+354delinsGAA | NP_001338746.1:n.1366+352_1366+354delinsGAA | |
| NM_001351818.2:c.1588+352_1588+354delinsGAA | NP_001338747.1:n.1588+352_1588+354delinsGAA | |
| NM_001351819.2:c.1732+352_1732+354delinsGAA | NP_001338748.1:n.1732+352_1732+354delinsGAA | |
| NM_001351820.2:c.1591+352_1591+354delinsGAA | NP_001338749.1:n.1591+352_1591+354delinsGAA | |
| NM_001351821.2:c.1591+352_1591+354delinsGAA | NP_001338750.1:n.1591+352_1591+354delinsGAA | |
| NM_001351822.2:c.1591+352_1591+354delinsGAA | NP_001338751.1:n.1591+352_1591+354delinsGAA | |
| NM_001351823.2:c.1606+352_1606+354delinsGAA | NP_001338752.1:n.1606+352_1606+354delinsGAA | |
| NM_001351824.2:c.1720+352_1720+354delinsGAA | NP_001338753.1:n.1720+352_1720+354delinsGAA | |
| NR_147785.2:n.2156+352_2156+354delinsGAA | ||
| NR_147786.2:n.2153+352_2153+354delinsGAA | ||
| NR_147787.2:n.2306+352_2306+354delinsGAA | ||
| NR_147788.2:n.2208+352_2208+354delinsGAA | ||
| NR_147789.2:n.2374+352_2374+354delinsGAA | ||
| NR_147790.2:n.2227+352_2227+354delinsGAA | ||
| NR_147791.2:n.2224+352_2224+354delinsGAA |