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.131522989_131523008delinsGTGCCACGTGTCCAACACGC , CM000671.2:g.131522989_131523008delinsGTGCCACGTGTCCAACACGC | GRCh38 |
| NC_000009.11:g.134398376_134398395delinsGTGCCACGTGTCCAACACGC , CM000671.1:g.134398376_134398395delinsGTGCCACGTGTCCAACACGC | GRCh37 |
| NC_000009.10:g.133388197_133388216delinsGTGCCACGTGTCCAACACGC | NCBI36 |
| NG_008896.1:g.25088_25107delinsGTGCCACGTGTCCAACACGC | |
| NG_008896.2:g.25088_25107delinsGTGCCACGTGTCCAACACGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1899_1918delinsGTGCCACGTGTCCAACACGC | ENSP00000343034.7:p.Ala633= | |
| ENST00000404875.7:n.2601_2620delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000423007.6:c.2118_2137delinsGTGCCACGTGTCCAACACGC | ENSP00000404119.2:p.Ala706= | |
| ENST00000677295.2:c.*2405_*2424delinsGTGCCACGTGTCCAACACGC | ENSP00000504346.2:n.*2405_*2424delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678264.2:c.*2244_*2263delinsGTGCCACGTGTCCAACACGC | ENSP00000503157.2:n.*2244_*2263delinsGTGCCACGTGTCCAACACGC | |
| ENST00000682070.1:n.2371_2390delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000682639.1:c.58_77delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000682813.1:n.2458_2477delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000683231.1:c.58_77delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000683392.1:n.4653_4672delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000683712.1:n.2466_2485delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000683900.1:n.3961_3980delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000684062.1:n.2727_2746delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000684399.1:c.58_77delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000684579.1:n.3907_3926delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000341012.12:c.1899_1918delinsGTGCCACGTGTCCAACACGC | ENSP00000343034.7:p.Ala633= | |
| ENST00000372220.5:c.930_949delinsGTGCCACGTGTCCAACACGC | ENSP00000361294.5:p.Ala310= | |
| ENST00000372228.9:c.2127_2146delinsGTGCCACGTGTCCAACACGC | ENSP00000361302.3:p.Ala709= | |
| ENST00000402686.8:c.2061_2080delinsGTGCCACGTGTCCAACACGC MANE Select | ENSP00000385797.4:p.Ala687= | |
| ENST00000676640.1:c.2061_2080delinsGTGCCACGTGTCCAACACGC | ENSP00000503281.1:p.Ala687= | |
| ENST00000676803.1:c.1122_1141delinsGTGCCACGTGTCCAACACGC | ENSP00000503093.1:p.Ala374= | |
| ENST00000676835.1:c.*1276_*1295delinsGTGCCACGTGTCCAACACGC | ENSP00000502911.1:n.*1276_*1295delinsGTGCCACGTGTCCAACACGC | |
| ENST00000677029.1:c.1605_1624delinsGTGCCACGTGTCCAACACGC | ENSP00000502936.1:p.Ala535= | |
| ENST00000677099.1:c.*1771_*1790delinsGTGCCACGTGTCCAACACGC | ENSP00000504553.1:n.*1771_*1790delinsGTGCCACGTGTCCAACACGC | |
| ENST00000677216.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | ENSP00000503772.1:p.Ala570= | |
| ENST00000677221.1:n.1086_1105delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000677295.1:c.*1283_*1302delinsGTGCCACGTGTCCAACACGC | ENSP00000504346.1:n.*1283_*1302delinsGTGCCACGTGTCCAACACGC | |
| ENST00000677444.1:c.2006_2025delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000677586.1:n.1428_1447delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000677626.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | ENSP00000503552.1:p.Ala570= | |
| ENST00000677853.1:c.*1069_*1088delinsGTGCCACGTGTCCAACACGC | ENSP00000503488.1:n.*1069_*1088delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678264.1:c.*1438_*1457delinsGTGCCACGTGTCCAACACGC | ENSP00000503157.1:n.*1438_*1457delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678303.1:c.1971_1990delinsGTGCCACGTGTCCAACACGC | ENSP00000503696.1:p.Ala657= | |
| ENST00000678366.1:c.*2310_*2329delinsGTGCCACGTGTCCAACACGC | ENSP00000504353.1:n.*2310_*2329delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678546.1:c.*2006_*2025delinsGTGCCACGTGTCCAACACGC | ENSP00000503062.1:n.*2006_*2025delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678548.1:c.*2200_*2219delinsGTGCCACGTGTCCAACACGC | ENSP00000503934.1:n.*2200_*2219delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678626.1:n.1897_1916delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000678739.1:c.*2227_*2246delinsGTGCCACGTGTCCAACACGC | ENSP00000503806.1:n.*2227_*2246delinsGTGCCACGTGTCCAACACGC | |
| ENST00000678833.1:c.*1813_*1832delinsGTGCCACGTGTCCAACACGC | ENSP00000503893.1:n.*1813_*1832delinsGTGCCACGTGTCCAACACGC | |
| ENST00000679023.1:c.1899_1918delinsGTGCCACGTGTCCAACACGC | ENSP00000503718.1:p.Ala633= | |
| ENST00000679076.1:c.1680_1699delinsGTGCCACGTGTCCAACACGC | ||
| ENST00000679111.1:c.*817_*836delinsGTGCCACGTGTCCAACACGC | ENSP00000504257.1:n.*817_*836delinsGTGCCACGTGTCCAACACGC | |
| ENST00000679189.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | ENSP00000503356.1:p.Ala570= | |
| ENST00000341012.11:c.1899_1918delinsGTGCCACGTGTCCAACACGC | ENSP00000343034.7:p.Ala633= | |
| ENST00000372220.4:c.924_943delinsGTGCCACGTGTCCAACACGC | ENSP00000361294.4:p.Ala308= | |
| ENST00000372228.7:c.2127_2146delinsGTGCCACGTGTCCAACACGC | ENSP00000361302.3:p.Ala709= | |
| ENST00000402686.7:c.2061_2080delinsGTGCCACGTGTCCAACACGC | ENSP00000385797.3:p.Ala687= | |
| ENST00000404875.6:c.1710_1729delinsGTGCCACGTGTCCAACACGC | ENSP00000384531.2:p.Ala570= | |
| ENST00000423007.5:c.2061_2080delinsGTGCCACGTGTCCAACACGC | ENSP00000404119.1:p.Ala687= | |
| ENST00000485278.5:n.2611_2630delinsGTGCCACGTGTCCAACACGC | ||
| NM_001077365.1:c.2061_2080delinsGTGCCACGTGTCCAACACGC | NP_001070833.1:p.Ala687= | |
| NM_001077366.1:c.1899_1918delinsGTGCCACGTGTCCAACACGC | NP_001070834.1:p.Ala633= | |
| NM_001136113.1:c.2061_2080delinsGTGCCACGTGTCCAACACGC | NP_001129585.1:p.Ala687= | |
| NM_001136114.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001129586.1:p.Ala570= | |
| NM_007171.3:c.2127_2146delinsGTGCCACGTGTCCAACACGC | NP_009102.3:p.Ala709= | |
| XM_005272156.1:c.2127_2146delinsGTGCCACGTGTCCAACACGC | XP_005272213.1:p.Ala709= | |
| XM_005272158.1:c.1965_1984delinsGTGCCACGTGTCCAACACGC | XP_005272215.1:p.Ala655= | |
| XM_005272159.1:c.1776_1795delinsGTGCCACGTGTCCAACACGC | XP_005272216.1:p.Ala592= | |
| XM_005272162.1:c.930_949delinsGTGCCACGTGTCCAACACGC | XP_005272219.1:p.Ala310= | |
| XM_006716932.1:c.1776_1795delinsGTGCCACGTGTCCAACACGC | XP_006716995.1:p.Ala592= | |
| XM_011518140.1:c.1980_1999delinsGTGCCACGTGTCCAACACGC | XP_011516442.1:p.Ala660= | |
| XM_011518141.1:c.1914_1933delinsGTGCCACGTGTCCAACACGC | XP_011516443.1:p.Ala638= | |
| XM_011518142.1:c.1818_1837delinsGTGCCACGTGTCCAACACGC | XP_011516444.1:p.Ala606= | |
| XM_011518143.1:c.1812_1831delinsGTGCCACGTGTCCAACACGC | XP_011516445.1:p.Ala604= | |
| XM_011518145.1:c.1671_1690delinsGTGCCACGTGTCCAACACGC | XP_011516447.1:p.Ala557= | |
| XM_011518147.1:c.999_1018delinsGTGCCACGTGTCCAACACGC | XP_011516449.1:p.Ala333= | |
| XR_929703.1:n.2303_2322delinsGTGCCACGTGTCCAACACGC | ||
| NM_001353193.1:c.2127_2146delinsGTGCCACGTGTCCAACACGC | NP_001340122.1:p.Ala709= | |
| NM_001353194.1:c.1899_1918delinsGTGCCACGTGTCCAACACGC | NP_001340123.1:p.Ala633= | |
| NM_001353195.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001340124.1:p.Ala570= | |
| NM_001353196.1:c.1971_1990delinsGTGCCACGTGTCCAACACGC | NP_001340125.1:p.Ala657= | |
| NM_001353197.1:c.1965_1984delinsGTGCCACGTGTCCAACACGC | NP_001340126.1:p.Ala655= | |
| NM_001353198.1:c.1965_1984delinsGTGCCACGTGTCCAACACGC | NP_001340127.1:p.Ala655= | |
| NM_001353199.1:c.1776_1795delinsGTGCCACGTGTCCAACACGC | NP_001340128.1:p.Ala592= | |
| NM_001353200.1:c.1605_1624delinsGTGCCACGTGTCCAACACGC | NP_001340129.1:p.Ala535= | |
| NR_148391.1:n.2111_2130delinsGTGCCACGTGTCCAACACGC | ||
| NR_148392.1:n.2329_2348delinsGTGCCACGTGTCCAACACGC | ||
| NR_148393.1:n.2250_2269delinsGTGCCACGTGTCCAACACGC | ||
| NR_148394.1:n.2004_2023delinsGTGCCACGTGTCCAACACGC | ||
| NR_148395.1:n.2402_2421delinsGTGCCACGTGTCCAACACGC | ||
| NR_148396.1:n.2036_2055delinsGTGCCACGTGTCCAACACGC | ||
| NR_148397.1:n.2161_2180delinsGTGCCACGTGTCCAACACGC | ||
| NR_148398.1:n.2116_2135delinsGTGCCACGTGTCCAACACGC | ||
| NR_148399.1:n.2642_2661delinsGTGCCACGTGTCCAACACGC | ||
| NR_148400.1:n.2241_2260delinsGTGCCACGTGTCCAACACGC | ||
| XM_005272162.3:c.930_949delinsGTGCCACGTGTCCAACACGC | XP_005272219.1:p.Ala310= | |
| XM_006716932.2:c.1776_1795delinsGTGCCACGTGTCCAACACGC | XP_006716995.1:p.Ala592= | |
| XM_011518140.2:c.1980_1999delinsGTGCCACGTGTCCAACACGC | XP_011516442.1:p.Ala660= | |
| XM_011518141.2:c.1914_1933delinsGTGCCACGTGTCCAACACGC | XP_011516443.1:p.Ala638= | |
| XM_011518142.2:c.1818_1837delinsGTGCCACGTGTCCAACACGC | XP_011516444.1:p.Ala606= | |
| XM_011518143.2:c.1812_1831delinsGTGCCACGTGTCCAACACGC | XP_011516445.1:p.Ala604= | |
| XM_011518145.2:c.1671_1690delinsGTGCCACGTGTCCAACACGC | XP_011516447.1:p.Ala557= | |
| XM_017014205.2:c.930_949delinsGTGCCACGTGTCCAACACGC | XP_016869694.1:p.Ala310= | |
| XM_024447380.1:c.930_949delinsGTGCCACGTGTCCAACACGC | XP_024303148.1:p.Ala310= | |
| XM_024447381.1:c.1236_1255delinsGTGCCACGTGTCCAACACGC | XP_024303149.1:p.Ala412= | |
| XM_024447382.1:c.930_949delinsGTGCCACGTGTCCAACACGC | XP_024303150.1:p.Ala310= | |
| XR_001746160.2:n.2231_2250delinsGTGCCACGTGTCCAACACGC | ||
| XR_001746162.2:n.2436_2455delinsGTGCCACGTGTCCAACACGC | ||
| XR_001746164.1:n.2153_2172delinsGTGCCACGTGTCCAACACGC | ||
| XR_001746166.2:n.2448_2467delinsGTGCCACGTGTCCAACACGC | ||
| NM_001077365.2:c.2061_2080delinsGTGCCACGTGTCCAACACGC MANE Select | NP_001070833.1:p.Ala687= | |
| NM_001077366.2:c.1899_1918delinsGTGCCACGTGTCCAACACGC | NP_001070834.1:p.Ala633= | |
| NM_001136113.2:c.2061_2080delinsGTGCCACGTGTCCAACACGC | NP_001129585.1:p.Ala687= | |
| NM_001136114.2:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001129586.1:p.Ala570= | |
| NM_001353193.2:c.2127_2146delinsGTGCCACGTGTCCAACACGC | NP_001340122.2:p.Ala709= | |
| NM_001353194.2:c.1899_1918delinsGTGCCACGTGTCCAACACGC | NP_001340123.1:p.Ala633= | |
| NM_001353195.2:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001340124.1:p.Ala570= | |
| NM_001353196.2:c.1971_1990delinsGTGCCACGTGTCCAACACGC | NP_001340125.1:p.Ala657= | |
| NM_001353197.2:c.1965_1984delinsGTGCCACGTGTCCAACACGC | NP_001340126.2:p.Ala655= | |
| NM_001353198.2:c.1965_1984delinsGTGCCACGTGTCCAACACGC | NP_001340127.2:p.Ala655= | |
| NM_001353199.2:c.1776_1795delinsGTGCCACGTGTCCAACACGC | NP_001340128.2:p.Ala592= | |
| NM_001353200.2:c.1605_1624delinsGTGCCACGTGTCCAACACGC | NP_001340129.1:p.Ala535= | |
| NM_001374689.1:c.2049_2068delinsGTGCCACGTGTCCAACACGC | NP_001361618.1:p.Ala683= | |
| NM_001374690.1:c.1842_1861delinsGTGCCACGTGTCCAACACGC | NP_001361619.1:p.Ala614= | |
| NM_001374691.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001361620.1:p.Ala570= | |
| NM_001374692.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001361621.1:p.Ala570= | |
| NM_001374693.1:c.1710_1729delinsGTGCCACGTGTCCAACACGC | NP_001361622.1:p.Ala570= | |
| NM_001374695.1:c.1671_1690delinsGTGCCACGTGTCCAACACGC | NP_001361624.1:p.Ala557= | |
| NM_007171.4:c.2127_2146delinsGTGCCACGTGTCCAACACGC | NP_009102.4:p.Ala709= | |
| NR_148391.2:n.2095_2114delinsGTGCCACGTGTCCAACACGC | ||
| NR_148392.2:n.2313_2332delinsGTGCCACGTGTCCAACACGC | ||
| NR_148393.2:n.2234_2253delinsGTGCCACGTGTCCAACACGC | ||
| NR_148394.2:n.1988_2007delinsGTGCCACGTGTCCAACACGC | ||
| NR_148395.2:n.2386_2405delinsGTGCCACGTGTCCAACACGC | ||
| NR_148396.2:n.2020_2039delinsGTGCCACGTGTCCAACACGC | ||
| NR_148397.2:n.2145_2164delinsGTGCCACGTGTCCAACACGC | ||
| NR_148398.2:n.2100_2119delinsGTGCCACGTGTCCAACACGC | ||
| NR_148399.2:n.2626_2645delinsGTGCCACGTGTCCAACACGC | ||
| NR_148400.2:n.2225_2244delinsGTGCCACGTGTCCAACACGC |