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.131522092_131522093del , CM000671.2:g.131522092_131522093del | GRCh38 |
| NC_000009.11:g.134397479_134397480del , CM000671.1:g.134397479_134397480del | GRCh37 |
| NC_000009.10:g.133387300_133387301del | NCBI36 |
| NG_008896.1:g.24191_24192del | |
| NG_008896.2:g.24191_24192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1709_1710del | ENSP00000343034.7:p.Gly570ValfsTer? | |
| ENST00000404875.7:n.2411_2412del | ||
| ENST00000423007.6:c.1928_1929del | ENSP00000404119.2:p.Gly643ValfsTer? | |
| ENST00000677295.2:c.*2215_*2216del | ENSP00000504346.2:n.*2215_*2216del | |
| ENST00000678264.2:c.*2054_*2055del | ENSP00000503157.2:n.*2054_*2055del | |
| ENST00000682070.1:n.2291-110_2291-109del | ||
| ENST00000682813.1:n.2275_2276del | ||
| ENST00000683392.1:n.4573-110_4573-109del | ||
| ENST00000683712.1:n.2276_2277del | ||
| ENST00000683900.1:n.3771_3772del | ||
| ENST00000684062.1:n.2537_2538del | ||
| ENST00000684579.1:n.3717_3718del | ||
| ENST00000684679.1:n.1098_1099del | ||
| ENST00000341012.12:c.1709_1710del | ENSP00000343034.7:p.Gly570ValfsTer? | |
| ENST00000372220.5:c.740_741del | ENSP00000361294.5:p.Gly247ValfsTer? | |
| ENST00000372228.9:c.1937_1938del | ENSP00000361302.3:p.Gly646ValfsTer? | |
| ENST00000402686.8:c.1871_1872del MANE Select | ENSP00000385797.4:p.Gly624ValfsTer? | |
| ENST00000676640.1:c.1871_1872del | ENSP00000503281.1:p.Gly624ValfsTer? | |
| ENST00000676803.1:c.932_933del | ENSP00000503093.1:p.Gly311ValfsTer? | |
| ENST00000676835.1:c.*1086_*1087del | ENSP00000502911.1:n.*1086_*1087del | |
| ENST00000677029.1:c.1415_1416del | ENSP00000502936.1:p.Gly472ValfsTer? | |
| ENST00000677099.1:c.*1581_*1582del | ENSP00000504553.1:n.*1581_*1582del | |
| ENST00000677216.1:c.1520_1521del | ENSP00000503772.1:p.Gly507ValfsTer? | |
| ENST00000677221.1:n.896_897del | ||
| ENST00000677295.1:c.*1203-110_*1203-109del | ENSP00000504346.1:n.*1203-110_*1203-109del | |
| ENST00000677444.1:c.1816_1817del | ||
| ENST00000677586.1:n.1238_1239del | ||
| ENST00000677626.1:c.1520_1521del | ENSP00000503552.1:p.Gly507ValfsTer? | |
| ENST00000677853.1:c.*879_*880del | ENSP00000503488.1:n.*879_*880del | |
| ENST00000678202.1:n.1030_1031del | ||
| ENST00000678264.1:c.*1248_*1249del | ENSP00000503157.1:n.*1248_*1249del | |
| ENST00000678303.1:c.1781_1782del | ENSP00000503696.1:p.Gly594ValfsTer? | |
| ENST00000678366.1:c.*2120_*2121del | ENSP00000504353.1:n.*2120_*2121del | |
| ENST00000678546.1:c.*1816_*1817del | ENSP00000503062.1:n.*1816_*1817del | |
| ENST00000678548.1:c.*2010_*2011del | ENSP00000503934.1:n.*2010_*2011del | |
| ENST00000678626.1:n.1707_1708del | ||
| ENST00000678739.1:c.*2147-110_*2147-109del | ENSP00000503806.1:n.*2147-110_*2147-109del | |
| ENST00000678833.1:c.*1623_*1624del | ENSP00000503893.1:n.*1623_*1624del | |
| ENST00000679023.1:c.1709_1710del | ENSP00000503718.1:p.Gly570ValfsTer? | |
| ENST00000679076.1:c.1490_1491del | ||
| ENST00000679111.1:c.*627_*628del | ENSP00000504257.1:n.*627_*628del | |
| ENST00000679189.1:c.1520_1521del | ENSP00000503356.1:p.Gly507ValfsTer? | |
| ENST00000341012.11:c.1709_1710del | ENSP00000343034.7:p.Gly570ValfsTer? | |
| ENST00000372220.4:c.734_735del | ENSP00000361294.4:p.Gly245ValfsTer? | |
| ENST00000372228.7:c.1937_1938del | ENSP00000361302.3:p.Gly646ValfsTer? | |
| ENST00000402686.7:c.1871_1872del | ENSP00000385797.3:p.Gly624ValfsTer? | |
| ENST00000404875.6:c.1520_1521del | ENSP00000384531.2:p.Gly507ValfsTer? | |
| ENST00000423007.5:c.1871_1872del | ENSP00000404119.1:p.Gly624ValfsTer? | |
| ENST00000485278.5:n.2421_2422del | ||
| ENST00000494883.1:n.414_415del | ||
| NM_001077365.1:c.1871_1872del | NP_001070833.1:p.Gly624ValfsTer? | |
| NM_001077366.1:c.1709_1710del | NP_001070834.1:p.Gly570ValfsTer? | |
| NM_001136113.1:c.1871_1872del | NP_001129585.1:p.Gly624ValfsTer? | |
| NM_001136114.1:c.1520_1521del | NP_001129586.1:p.Gly507ValfsTer? | |
| NM_007171.3:c.1937_1938del | NP_009102.3:p.Gly646ValfsTer? | |
| XM_005272156.1:c.1937_1938del | XP_005272213.1:p.Gly646ValfsTer? | |
| XM_005272158.1:c.1775_1776del | XP_005272215.1:p.Gly592ValfsTer? | |
| XM_005272159.1:c.1586_1587del | XP_005272216.1:p.Gly529ValfsTer? | |
| XM_005272162.1:c.740_741del | XP_005272219.1:p.Gly247ValfsTer? | |
| XM_006716932.1:c.1586_1587del | XP_006716995.1:p.Gly529ValfsTer? | |
| XM_011518140.1:c.1790_1791del | XP_011516442.1:p.Gly597ValfsTer? | |
| XM_011518141.1:c.1724_1725del | XP_011516443.1:p.Gly575ValfsTer? | |
| XM_011518142.1:c.1628_1629del | XP_011516444.1:p.Gly543ValfsTer? | |
| XM_011518143.1:c.1622_1623del | XP_011516445.1:p.Gly541ValfsTer? | |
| XM_011518145.1:c.1481_1482del | XP_011516447.1:p.Gly494ValfsTer? | |
| XM_011518147.1:c.809_810del | XP_011516449.1:p.Gly270ValfsTer? | |
| XR_929703.1:n.2113_2114del | ||
| NM_001353193.1:c.1937_1938del | NP_001340122.1:p.Gly646ValfsTer? | |
| NM_001353194.1:c.1709_1710del | NP_001340123.1:p.Gly570ValfsTer? | |
| NM_001353195.1:c.1520_1521del | NP_001340124.1:p.Gly507ValfsTer? | |
| NM_001353196.1:c.1781_1782del | NP_001340125.1:p.Gly594ValfsTer? | |
| NM_001353197.1:c.1775_1776del | NP_001340126.1:p.Gly592ValfsTer? | |
| NM_001353198.1:c.1775_1776del | NP_001340127.1:p.Gly592ValfsTer? | |
| NM_001353199.1:c.1586_1587del | NP_001340128.1:p.Gly529ValfsTer? | |
| NM_001353200.1:c.1415_1416del | NP_001340129.1:p.Gly472ValfsTer? | |
| NR_148391.1:n.1921_1922del | ||
| NR_148392.1:n.2139_2140del | ||
| NR_148393.1:n.2060_2061del | ||
| NR_148394.1:n.1814_1815del | ||
| NR_148395.1:n.2212_2213del | ||
| NR_148396.1:n.1846_1847del | ||
| NR_148397.1:n.1971_1972del | ||
| NR_148398.1:n.1926_1927del | ||
| NR_148399.1:n.2452_2453del | ||
| NR_148400.1:n.2051_2052del | ||
| XM_005272162.3:c.740_741del | XP_005272219.1:p.Gly247ValfsTer? | |
| XM_006716932.2:c.1586_1587del | XP_006716995.1:p.Gly529ValfsTer? | |
| XM_011518140.2:c.1790_1791del | XP_011516442.1:p.Gly597ValfsTer? | |
| XM_011518141.2:c.1724_1725del | XP_011516443.1:p.Gly575ValfsTer? | |
| XM_011518142.2:c.1628_1629del | XP_011516444.1:p.Gly543ValfsTer? | |
| XM_011518143.2:c.1622_1623del | XP_011516445.1:p.Gly541ValfsTer? | |
| XM_011518145.2:c.1481_1482del | XP_011516447.1:p.Gly494ValfsTer? | |
| XM_017014205.2:c.740_741del | XP_016869694.1:p.Gly247ValfsTer? | |
| XM_024447380.1:c.740_741del | XP_024303148.1:p.Gly247ValfsTer? | |
| XM_024447381.1:c.1046_1047del | XP_024303149.1:p.Gly349ValfsTer? | |
| XM_024447382.1:c.740_741del | XP_024303150.1:p.Gly247ValfsTer? | |
| XR_001746160.2:n.2041_2042del | ||
| XR_001746162.2:n.2246_2247del | ||
| XR_001746164.1:n.1963_1964del | ||
| XR_001746166.2:n.2258_2259del | ||
| NM_001077365.2:c.1871_1872del MANE Select | NP_001070833.1:p.Gly624ValfsTer? | |
| NM_001077366.2:c.1709_1710del | NP_001070834.1:p.Gly570ValfsTer? | |
| NM_001136113.2:c.1871_1872del | NP_001129585.1:p.Gly624ValfsTer? | |
| NM_001136114.2:c.1520_1521del | NP_001129586.1:p.Gly507ValfsTer? | |
| NM_001353193.2:c.1937_1938del | NP_001340122.2:p.Gly646ValfsTer? | |
| NM_001353194.2:c.1709_1710del | NP_001340123.1:p.Gly570ValfsTer? | |
| NM_001353195.2:c.1520_1521del | NP_001340124.1:p.Gly507ValfsTer? | |
| NM_001353196.2:c.1781_1782del | NP_001340125.1:p.Gly594ValfsTer? | |
| NM_001353197.2:c.1775_1776del | NP_001340126.2:p.Gly592ValfsTer? | |
| NM_001353198.2:c.1775_1776del | NP_001340127.2:p.Gly592ValfsTer? | |
| NM_001353199.2:c.1586_1587del | NP_001340128.2:p.Gly529ValfsTer? | |
| NM_001353200.2:c.1415_1416del | NP_001340129.1:p.Gly472ValfsTer? | |
| NM_001374689.1:c.1859_1860del | NP_001361618.1:p.Gly620ValfsTer? | |
| NM_001374690.1:c.1652_1653del | NP_001361619.1:p.Gly551ValfsTer? | |
| NM_001374691.1:c.1520_1521del | NP_001361620.1:p.Gly507ValfsTer? | |
| NM_001374692.1:c.1520_1521del | NP_001361621.1:p.Gly507ValfsTer? | |
| NM_001374693.1:c.1520_1521del | NP_001361622.1:p.Gly507ValfsTer? | |
| NM_001374695.1:c.1481_1482del | NP_001361624.1:p.Gly494ValfsTer? | |
| NM_007171.4:c.1937_1938del | NP_009102.4:p.Gly646ValfsTer? | |
| NR_148391.2:n.1905_1906del | ||
| NR_148392.2:n.2123_2124del | ||
| NR_148393.2:n.2044_2045del | ||
| NR_148394.2:n.1798_1799del | ||
| NR_148395.2:n.2196_2197del | ||
| NR_148396.2:n.1830_1831del | ||
| NR_148397.2:n.1955_1956del | ||
| NR_148398.2:n.1910_1911del | ||
| NR_148399.2:n.2436_2437del | ||
| NR_148400.2:n.2035_2036del |