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_000009.12:g.131522138_131522139del , CM000671.2:g.131522138_131522139del | GRCh38 |
| NC_000009.11:g.134397525_134397526del , CM000671.1:g.134397525_134397526del | GRCh37 |
| NC_000009.10:g.133387346_133387347del | NCBI36 |
| NG_008896.1:g.24237_24238del | |
| NG_008896.2:g.24237_24238del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1755_1756del | ENSP00000343034.7:p.Phe586ProfsTer? | |
| ENST00000404875.7:n.2457_2458del | ||
| ENST00000423007.6:c.1974_1975del | ENSP00000404119.2:p.Phe659ProfsTer? | |
| ENST00000677295.2:c.*2261_*2262del | ENSP00000504346.2:n.*2261_*2262del | |
| ENST00000678264.2:c.*2100_*2101del | ENSP00000503157.2:n.*2100_*2101del | |
| ENST00000682070.1:n.2291-64_2291-63del | ||
| ENST00000682813.1:n.2321_2322del | ||
| ENST00000683392.1:n.4573-64_4573-63del | ||
| ENST00000683712.1:n.2322_2323del | ||
| ENST00000683900.1:n.3817_3818del | ||
| ENST00000684062.1:n.2583_2584del | ||
| ENST00000684579.1:n.3763_3764del | ||
| ENST00000684679.1:n.1144_1145del | ||
| ENST00000341012.12:c.1755_1756del | ENSP00000343034.7:p.Phe586ProfsTer? | |
| ENST00000372220.5:c.786_787del | ENSP00000361294.5:p.Phe263ProfsTer? | |
| ENST00000372228.9:c.1983_1984del | ENSP00000361302.3:p.Phe662ProfsTer? | |
| ENST00000402686.8:c.1917_1918del MANE Select | ENSP00000385797.4:p.Phe640ProfsTer? | |
| ENST00000676640.1:c.1917_1918del | ENSP00000503281.1:p.Phe640ProfsTer? | |
| ENST00000676803.1:c.978_979del | ENSP00000503093.1:p.Phe327ProfsTer? | |
| ENST00000676835.1:c.*1132_*1133del | ENSP00000502911.1:n.*1132_*1133del | |
| ENST00000677029.1:c.1461_1462del | ENSP00000502936.1:p.Phe488ProfsTer? | |
| ENST00000677099.1:c.*1627_*1628del | ENSP00000504553.1:n.*1627_*1628del | |
| ENST00000677216.1:c.1566_1567del | ENSP00000503772.1:p.Phe523ProfsTer? | |
| ENST00000677221.1:n.942_943del | ||
| ENST00000677295.1:c.*1203-64_*1203-63del | ENSP00000504346.1:n.*1203-64_*1203-63del | |
| ENST00000677444.1:c.1862_1863del | ||
| ENST00000677586.1:n.1284_1285del | ||
| ENST00000677626.1:c.1566_1567del | ENSP00000503552.1:p.Phe523ProfsTer? | |
| ENST00000677853.1:c.*925_*926del | ENSP00000503488.1:n.*925_*926del | |
| ENST00000678202.1:n.1076_1077del | ||
| ENST00000678264.1:c.*1294_*1295del | ENSP00000503157.1:n.*1294_*1295del | |
| ENST00000678303.1:c.1827_1828del | ENSP00000503696.1:p.Phe610ProfsTer? | |
| ENST00000678366.1:c.*2166_*2167del | ENSP00000504353.1:n.*2166_*2167del | |
| ENST00000678546.1:c.*1862_*1863del | ENSP00000503062.1:n.*1862_*1863del | |
| ENST00000678548.1:c.*2056_*2057del | ENSP00000503934.1:n.*2056_*2057del | |
| ENST00000678626.1:n.1753_1754del | ||
| ENST00000678739.1:c.*2147-64_*2147-63del | ENSP00000503806.1:n.*2147-64_*2147-63del | |
| ENST00000678833.1:c.*1669_*1670del | ENSP00000503893.1:n.*1669_*1670del | |
| ENST00000679023.1:c.1755_1756del | ENSP00000503718.1:p.Phe586ProfsTer? | |
| ENST00000679076.1:c.1536_1537del | ||
| ENST00000679111.1:c.*673_*674del | ENSP00000504257.1:n.*673_*674del | |
| ENST00000679189.1:c.1566_1567del | ENSP00000503356.1:p.Phe523ProfsTer? | |
| ENST00000341012.11:c.1755_1756del | ENSP00000343034.7:p.Phe586ProfsTer? | |
| ENST00000372220.4:c.780_781del | ENSP00000361294.4:p.Phe261ProfsTer? | |
| ENST00000372228.7:c.1983_1984del | ENSP00000361302.3:p.Phe662ProfsTer? | |
| ENST00000402686.7:c.1917_1918del | ENSP00000385797.3:p.Phe640ProfsTer? | |
| ENST00000404875.6:c.1566_1567del | ENSP00000384531.2:p.Phe523ProfsTer? | |
| ENST00000423007.5:c.1917_1918del | ENSP00000404119.1:p.Phe640ProfsTer? | |
| ENST00000485278.5:n.2467_2468del | ||
| ENST00000494883.1:n.460_461del | ||
| NM_001077365.1:c.1917_1918del | NP_001070833.1:p.Phe640ProfsTer? | |
| NM_001077366.1:c.1755_1756del | NP_001070834.1:p.Phe586ProfsTer? | |
| NM_001136113.1:c.1917_1918del | NP_001129585.1:p.Phe640ProfsTer? | |
| NM_001136114.1:c.1566_1567del | NP_001129586.1:p.Phe523ProfsTer? | |
| NM_007171.3:c.1983_1984del | NP_009102.3:p.Phe662ProfsTer? | |
| XM_005272156.1:c.1983_1984del | XP_005272213.1:p.Phe662ProfsTer? | |
| XM_005272158.1:c.1821_1822del | XP_005272215.1:p.Phe608ProfsTer? | |
| XM_005272159.1:c.1632_1633del | XP_005272216.1:p.Phe545ProfsTer? | |
| XM_005272162.1:c.786_787del | XP_005272219.1:p.Phe263ProfsTer? | |
| XM_006716932.1:c.1632_1633del | XP_006716995.1:p.Phe545ProfsTer? | |
| XM_011518140.1:c.1836_1837del | XP_011516442.1:p.Phe613ProfsTer? | |
| XM_011518141.1:c.1770_1771del | XP_011516443.1:p.Phe591ProfsTer? | |
| XM_011518142.1:c.1674_1675del | XP_011516444.1:p.Phe559ProfsTer? | |
| XM_011518143.1:c.1668_1669del | XP_011516445.1:p.Phe557ProfsTer? | |
| XM_011518145.1:c.1527_1528del | XP_011516447.1:p.Phe510ProfsTer? | |
| XM_011518147.1:c.855_856del | XP_011516449.1:p.Phe286ProfsTer? | |
| XR_929703.1:n.2159_2160del | ||
| NM_001353193.1:c.1983_1984del | NP_001340122.1:p.Phe662ProfsTer? | |
| NM_001353194.1:c.1755_1756del | NP_001340123.1:p.Phe586ProfsTer? | |
| NM_001353195.1:c.1566_1567del | NP_001340124.1:p.Phe523ProfsTer? | |
| NM_001353196.1:c.1827_1828del | NP_001340125.1:p.Phe610ProfsTer? | |
| NM_001353197.1:c.1821_1822del | NP_001340126.1:p.Phe608ProfsTer? | |
| NM_001353198.1:c.1821_1822del | NP_001340127.1:p.Phe608ProfsTer? | |
| NM_001353199.1:c.1632_1633del | NP_001340128.1:p.Phe545ProfsTer? | |
| NM_001353200.1:c.1461_1462del | NP_001340129.1:p.Phe488ProfsTer? | |
| NR_148391.1:n.1967_1968del | ||
| NR_148392.1:n.2185_2186del | ||
| NR_148393.1:n.2106_2107del | ||
| NR_148394.1:n.1860_1861del | ||
| NR_148395.1:n.2258_2259del | ||
| NR_148396.1:n.1892_1893del | ||
| NR_148397.1:n.2017_2018del | ||
| NR_148398.1:n.1972_1973del | ||
| NR_148399.1:n.2498_2499del | ||
| NR_148400.1:n.2097_2098del | ||
| XM_005272162.3:c.786_787del | XP_005272219.1:p.Phe263ProfsTer? | |
| XM_006716932.2:c.1632_1633del | XP_006716995.1:p.Phe545ProfsTer? | |
| XM_011518140.2:c.1836_1837del | XP_011516442.1:p.Phe613ProfsTer? | |
| XM_011518141.2:c.1770_1771del | XP_011516443.1:p.Phe591ProfsTer? | |
| XM_011518142.2:c.1674_1675del | XP_011516444.1:p.Phe559ProfsTer? | |
| XM_011518143.2:c.1668_1669del | XP_011516445.1:p.Phe557ProfsTer? | |
| XM_011518145.2:c.1527_1528del | XP_011516447.1:p.Phe510ProfsTer? | |
| XM_017014205.2:c.786_787del | XP_016869694.1:p.Phe263ProfsTer? | |
| XM_024447380.1:c.786_787del | XP_024303148.1:p.Phe263ProfsTer? | |
| XM_024447381.1:c.1092_1093del | XP_024303149.1:p.Phe365ProfsTer? | |
| XM_024447382.1:c.786_787del | XP_024303150.1:p.Phe263ProfsTer? | |
| XR_001746160.2:n.2087_2088del | ||
| XR_001746162.2:n.2292_2293del | ||
| XR_001746164.1:n.2009_2010del | ||
| XR_001746166.2:n.2304_2305del | ||
| NM_001077365.2:c.1917_1918del MANE Select | NP_001070833.1:p.Phe640ProfsTer? | |
| NM_001077366.2:c.1755_1756del | NP_001070834.1:p.Phe586ProfsTer? | |
| NM_001136113.2:c.1917_1918del | NP_001129585.1:p.Phe640ProfsTer? | |
| NM_001136114.2:c.1566_1567del | NP_001129586.1:p.Phe523ProfsTer? | |
| NM_001353193.2:c.1983_1984del | NP_001340122.2:p.Phe662ProfsTer? | |
| NM_001353194.2:c.1755_1756del | NP_001340123.1:p.Phe586ProfsTer? | |
| NM_001353195.2:c.1566_1567del | NP_001340124.1:p.Phe523ProfsTer? | |
| NM_001353196.2:c.1827_1828del | NP_001340125.1:p.Phe610ProfsTer? | |
| NM_001353197.2:c.1821_1822del | NP_001340126.2:p.Phe608ProfsTer? | |
| NM_001353198.2:c.1821_1822del | NP_001340127.2:p.Phe608ProfsTer? | |
| NM_001353199.2:c.1632_1633del | NP_001340128.2:p.Phe545ProfsTer? | |
| NM_001353200.2:c.1461_1462del | NP_001340129.1:p.Phe488ProfsTer? | |
| NM_001374689.1:c.1905_1906del | NP_001361618.1:p.Phe636ProfsTer? | |
| NM_001374690.1:c.1698_1699del | NP_001361619.1:p.Phe567ProfsTer? | |
| NM_001374691.1:c.1566_1567del | NP_001361620.1:p.Phe523ProfsTer? | |
| NM_001374692.1:c.1566_1567del | NP_001361621.1:p.Phe523ProfsTer? | |
| NM_001374693.1:c.1566_1567del | NP_001361622.1:p.Phe523ProfsTer? | |
| NM_001374695.1:c.1527_1528del | NP_001361624.1:p.Phe510ProfsTer? | |
| NM_007171.4:c.1983_1984del | NP_009102.4:p.Phe662ProfsTer? | |
| NR_148391.2:n.1951_1952del | ||
| NR_148392.2:n.2169_2170del | ||
| NR_148393.2:n.2090_2091del | ||
| NR_148394.2:n.1844_1845del | ||
| NR_148395.2:n.2242_2243del | ||
| NR_148396.2:n.1876_1877del | ||
| NR_148397.2:n.2001_2002del | ||
| NR_148398.2:n.1956_1957del | ||
| NR_148399.2:n.2482_2483del | ||
| NR_148400.2:n.2081_2082del |