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_000002.12:g.58160120T>A , CM000664.2:g.58160120T>A | GRCh38 |
| NC_000002.11:g.58387255T>A , CM000664.1:g.58387255T>A | GRCh37 |
| NC_000002.10:g.58240759T>A | NCBI36 |
| NG_007418.1:g.86260A>T , LRG_501:g.86260A>T | |
| NG_029717.2:g.257380T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1095A>T (FANCL) | ENSP00000385021.3:p.Pro365= | |
| ENST00000403295.8:c.996A>T (FANCL) | ENSP00000386097.3:p.Pro332= | |
| ENST00000403676.6:c.*643A>T (FANCL) | ENSP00000384046.2:n.*643A>T | |
| ENST00000417361.2:c.*658A>T (FANCL) | ENSP00000389448.2:n.*658A>T | |
| ENST00000427708.7:c.1125A>T (FANCL) | ENSP00000400969.3:p.Pro375= | |
| ENST00000446381.6:c.636A>T (FANCL) | ENSP00000390991.2:p.Pro212= | |
| ENST00000449070.6:c.903A>T (FANCL) | ENSP00000401280.2:p.Pro301= | |
| ENST00000470506.2:n.1594A>T (FANCL) | ||
| ENST00000696305.1:c.1023A>T (FANCL) | ENSP00000512543.1:p.Pro341= | |
| ENST00000696306.1:c.*970A>T (FANCL) | ENSP00000512544.1:n.*970A>T | |
| ENST00000696307.1:c.1065A>T (FANCL) | ENSP00000512545.1:p.Pro355= | |
| ENST00000696314.1:c.*133A>T (FANCL) | ENSP00000512552.1:n.*133A>T | |
| ENST00000696315.1:c.*643A>T (FANCL) | ENSP00000512553.1:n.*643A>T | |
| ENST00000696316.1:c.963A>T (FANCL) | ENSP00000512554.1:p.Pro321= | |
| ENST00000696317.1:c.*53A>T (FANCL) | ENSP00000512555.1:n.*53A>T | |
| ENST00000696318.1:c.*133A>T (FANCL) | ENSP00000512556.1:n.*133A>T | |
| ENST00000696319.1:c.1038A>T (FANCL) | ENSP00000512557.1:p.Pro346= | |
| ENST00000696320.1:n.2759A>T (FANCL) | ||
| ENST00000696324.1:c.*530A>T (FANCL) | ENSP00000512561.1:n.*530A>T | |
| ENST00000696325.1:n.4163A>T (FANCL) | ||
| ENST00000696326.1:c.1140A>T (FANCL) | ENSP00000512562.1:p.Pro380= | |
| ENST00000696338.1:n.1194A>T (FANCL) | ||
| ENST00000696339.1:n.2652A>T (FANCL) | ||
| ENST00000696340.1:n.3306A>T (FANCL) | ||
| ENST00000696341.1:n.1588A>T (FANCL) | ||
| ENST00000696342.1:c.*2310A>T (FANCL) | ENSP00000512569.1:n.*2310A>T | |
| ENST00000696343.1:n.2939A>T (FANCL) | ||
| ENST00000696344.1:c.*794A>T (FANCL) | ENSP00000512570.1:n.*794A>T | |
| ENST00000696358.1:n.3753A>T (FANCL) | ||
| ENST00000696359.1:n.3430A>T (FANCL) | ||
| ENST00000696360.1:n.1865A>T (FANCL) | ||
| ENST00000696361.1:c.*1083A>T (FANCL) | ENSP00000512579.1:n.*1083A>T | |
| ENST00000696362.1:c.*530A>T (FANCL) | ENSP00000512580.1:n.*530A>T | |
| ENST00000696363.1:n.2857A>T (FANCL) | ||
| ENST00000696364.1:n.1473A>T (FANCL) | ||
| ENST00000696371.1:c.1071A>T (FANCL) | ENSP00000512586.1:p.Pro357= | |
| ENST00000696372.1:n.2169A>T (FANCL) | ||
| ENST00000696373.1:c.*2310A>T (FANCL) | ENSP00000512587.1:n.*2310A>T | |
| ENST00000696374.1:c.*448A>T (FANCL) | ENSP00000512588.1:n.*448A>T | |
| ENST00000696375.1:n.8013A>T (FANCL) | ||
| ENST00000696376.1:n.6866A>T (FANCL) | ||
| ENST00000696378.1:c.*1098A>T (FANCL) | ENSP00000512589.1:n.*1098A>T | |
| ENST00000696394.1:n.4582A>T (FANCL) | ||
| ENST00000696395.1:n.4521A>T (FANCL) | ||
| ENST00000696396.1:n.2234A>T (FANCL) | ||
| ENST00000696397.1:n.3205A>T (FANCL) | ||
| ENST00000696398.1:c.*227A>T (FANCL) | ENSP00000512604.1:n.*227A>T | |
| ENST00000696399.1:n.2354A>T (FANCL) | ||
| ENST00000696400.1:c.*844A>T (FANCL) | ENSP00000512605.1:n.*844A>T | |
| ENST00000696409.1:c.*597A>T (FANCL) | ENSP00000512610.1:n.*597A>T | |
| ENST00000696410.1:c.*561A>T (FANCL) | ENSP00000512611.1:n.*561A>T | |
| ENST00000696411.1:n.785A>T (FANCL) | ||
| ENST00000696412.1:n.1579A>T (FANCL) | ||
| ENST00000696413.1:n.1082A>T (FANCL) | ||
| ENST00000696414.1:n.2126A>T (FANCL) | ||
| ENST00000696415.1:c.*53A>T (FANCL) | ENSP00000512612.1:n.*53A>T | |
| ENST00000696416.1:n.1088A>T (FANCL) | ||
| ENST00000696432.1:n.3539A>T (FANCL) | ||
| ENST00000696433.1:c.*133A>T (FANCL) | ENSP00000512627.1:n.*133A>T | |
| ENST00000696434.1:c.918A>T (FANCL) | ENSP00000512628.1:p.Pro306= | |
| ENST00000696435.1:c.*227A>T (FANCL) | ENSP00000512629.1:n.*227A>T | |
| ENST00000696436.1:n.1034A>T (FANCL) | ||
| ENST00000696437.1:n.1497A>T (FANCL) | ||
| ENST00000696438.1:c.*913A>T (FANCL) | ENSP00000512630.1:n.*913A>T | |
| ENST00000696439.1:n.3129A>T (FANCL) | ||
| ENST00000696440.1:n.2116A>T (FANCL) | ||
| ENST00000696454.1:c.*431A>T (FANCL) | ENSP00000512641.1:n.*431A>T | |
| ENST00000696455.1:c.*133A>T (FANCL) | ENSP00000512642.1:n.*133A>T | |
| ENST00000696456.1:n.590A>T (FANCL) | ||
| ENST00000696457.1:c.*1851A>T (FANCL) | ENSP00000512643.1:n.*1851A>T | |
| ENST00000696458.1:c.*53A>T (FANCL) | ENSP00000512644.1:n.*53A>T | |
| ENST00000696459.1:c.*515A>T (FANCL) | ENSP00000512645.1:n.*515A>T | |
| ENST00000696460.1:n.1577A>T (FANCL) | ||
| ENST00000696467.1:c.*576A>T (FANCL) | ENSP00000512648.1:n.*576A>T | |
| ENST00000696468.1:c.*572A>T (FANCL) | ENSP00000512649.1:n.*572A>T | |
| ENST00000696469.1:c.*227A>T (FANCL) | ENSP00000512650.1:n.*227A>T | |
| ENST00000696470.1:n.3248A>T (FANCL) | ||
| ENST00000696471.1:n.750A>T (FANCL) | ||
| ENST00000696472.1:c.*133A>T (FANCL) | ENSP00000512651.1:n.*133A>T | |
| ENST00000696473.1:c.*763A>T (FANCL) | ENSP00000512652.1:n.*763A>T | |
| ENST00000696474.1:n.956A>T (FANCL) | ||
| ENST00000696475.1:n.2588A>T (FANCL) | ||
| ENST00000696492.1:c.*745A>T (FANCL) | ENSP00000512662.1:n.*745A>T | |
| ENST00000696493.1:c.*928A>T (FANCL) | ENSP00000512663.1:n.*928A>T | |
| ENST00000696494.1:n.1112A>T (FANCL) | ||
| ENST00000696495.1:c.*826A>T (FANCL) | ENSP00000512664.1:n.*826A>T | |
| ENST00000696496.1:n.1619A>T (FANCL) | ||
| ENST00000696497.1:n.4377A>T (FANCL) | ||
| ENST00000696498.1:n.1839A>T (FANCL) | ||
| ENST00000696499.1:c.*517A>T (FANCL) | ENSP00000512665.1:n.*517A>T | |
| ENST00000696508.1:c.*635A>T (FANCL) | ENSP00000512674.1:n.*635A>T | |
| ENST00000696509.1:c.*957A>T (FANCL) | ENSP00000512675.1:n.*957A>T | |
| ENST00000696510.1:c.552A>T (FANCL) | ENSP00000512676.1:p.Pro184= | |
| ENST00000696527.1:c.*133A>T (FANCL) | ENSP00000512690.1:n.*133A>T | |
| ENST00000696528.1:c.*133A>T (FANCL) | ENSP00000512691.1:n.*133A>T | |
| ENST00000696529.1:n.943A>T (FANCL) | ||
| ENST00000696530.1:c.876A>T (FANCL) | ENSP00000512692.1:p.Pro292= | |
| ENST00000696531.1:c.*612A>T (FANCL) | ENSP00000512693.1:n.*612A>T | |
| ENST00000696532.1:n.2227A>T (FANCL) | ||
| ENST00000696542.1:n.1018A>T (FANCL) | ||
| ENST00000696543.1:c.*133A>T (FANCL) | ENSP00000512703.1:n.*133A>T | |
| ENST00000696544.1:c.*133A>T (FANCL) | ENSP00000512704.1:n.*133A>T | |
| ENST00000696545.1:c.*748A>T (FANCL) | ENSP00000512705.1:n.*748A>T | |
| ENST00000696546.1:c.*859A>T (FANCL) | ENSP00000512706.1:n.*859A>T | |
| ENST00000696547.1:c.1068A>T (FANCL) | ENSP00000512707.1:p.Pro356= | |
| ENST00000696548.1:c.*1284A>T (FANCL) | ENSP00000512708.1:n.*1284A>T | |
| ENST00000696564.1:c.*133A>T (FANCL) | ENSP00000512722.1:n.*133A>T | |
| ENST00000696565.1:c.*133A>T (FANCL) | ENSP00000512723.1:n.*133A>T | |
| ENST00000696566.1:n.3668A>T (FANCL) | ||
| ENST00000696567.1:c.975A>T (FANCL) | ENSP00000512724.1:p.Pro325= | |
| ENST00000696568.1:n.506A>T (FANCL) | ||
| ENST00000696569.1:n.1189A>T (FANCL) | ||
| ENST00000696570.1:c.*402A>T (FANCL) | ENSP00000512725.1:n.*402A>T | |
| ENST00000696619.1:n.2636A>T (FANCL) | ||
| ENST00000696620.1:c.672A>T (FANCL) | ENSP00000512759.1:p.Pro224= | |
| ENST00000696621.1:c.*227A>T (FANCL) | ENSP00000512760.1:n.*227A>T | |
| ENST00000696622.1:n.2811A>T (FANCL) | ||
| ENST00000696623.1:n.1046A>T (FANCL) | ||
| ENST00000696624.1:c.1011A>T (FANCL) | ENSP00000512761.1:p.Pro337= | |
| ENST00000696625.1:c.*530A>T (FANCL) | ENSP00000512762.1:n.*530A>T | |
| ENST00000696634.1:c.793A>T (FANCL) | ENSP00000512770.1:n.793A>T | |
| ENST00000696635.1:c.1056A>T (FANCL) | ENSP00000512771.1:p.Pro352= | |
| ENST00000696636.1:n.3532A>T (FANCL) | ||
| ENST00000696637.1:n.8153A>T (FANCL) | ||
| ENST00000696638.1:n.1095A>T (FANCL) | ||
| ENST00000696639.1:n.3158A>T (FANCL) | ||
| ENST00000233741.9:c.1080A>T (FANCL) MANE Select | ENSP00000233741.5:p.Pro360= | |
| ENST00000233741.8:c.1080A>T (FANCL) | ENSP00000233741.4:p.Pro360= | |
| ENST00000402135.7:c.1095A>T (FANCL) | ENSP00000385021.3:p.Pro365= | |
| ENST00000403295.7:c.996A>T (FANCL) | ENSP00000386097.3:p.Pro332= | |
| ENST00000403676.5:c.729A>T (FANCL) | ENSP00000384046.1:p.Pro243= | |
| ENST00000449070.5:c.903A>T (FANCL) | ENSP00000401280.1:p.Pro301= | |
| NM_001114636.1:c.1095A>T , LRG_501t1:c.1095A>T (FANCL) | NP_001108108.1:p.Pro365= | |
| NM_018062.3:c.1080A>T , LRG_501t2:c.1080A>T (FANCL) | NP_060532.2:p.Pro360= | |
| XM_005264395.2:c.1080A>T (FANCL) | XP_005264452.1:p.Pro360= | |
| XM_005264397.3:c.729A>T (FANCL) | XP_005264454.1:p.Pro243= | |
| XM_011532939.1:c.1140A>T (FANCL) | XP_011531241.1:p.Pro380= | |
| XM_011532940.1:c.1125A>T (FANCL) | XP_011531242.1:p.Pro375= | |
| XM_011532941.1:c.1140A>T (FANCL) | XP_011531243.1:p.Pro380= | |
| XM_011532942.1:c.1095A>T (FANCL) | XP_011531244.1:p.Pro365= | |
| XM_011532943.1:c.1341A>T (FANCL) | XP_011531245.1:p.Pro447= | |
| XM_011532944.1:c.789A>T (FANCL) | XP_011531246.1:p.Pro263= | |
| XM_011532945.1:c.744A>T (FANCL) | XP_011531247.1:p.Pro248= | |
| XR_939692.1:n.1079A>T (FANCL) | ||
| NR_156742.1:n.869A>T (FANCL) | ||
| XM_005264395.4:c.1080A>T (FANCL) | XP_005264452.1:p.Pro360= | |
| XM_005264540.4:c.*427T>A (VRK2) | XP_005264597.1:n.*427T>A | |
| XM_006712090.4:c.*804T>A (VRK2) | XP_006712153.1:n.*804T>A | |
| XM_006712092.4:c.*427T>A (VRK2) | XP_006712155.1:n.*427T>A | |
| XM_006712093.4:c.*427T>A (VRK2) | XP_006712156.1:n.*427T>A | |
| XM_011532939.3:c.1140A>T (FANCL) | XP_011531241.1:p.Pro380= | |
| XM_011532940.3:c.1125A>T (FANCL) | XP_011531242.1:p.Pro375= | |
| XM_011532941.2:c.1140A>T (FANCL) | XP_011531243.1:p.Pro380= | |
| XM_011532942.3:c.1095A>T (FANCL) | XP_011531244.1:p.Pro365= | |
| XM_011532944.2:c.789A>T (FANCL) | XP_011531246.1:p.Pro263= | |
| XM_011532945.2:c.744A>T (FANCL) | XP_011531247.1:p.Pro248= | |
| XM_011533092.3:c.*427T>A (VRK2) | XP_011531394.1:n.*427T>A | |
| XM_017004414.2:c.1125A>T (FANCL) | XP_016859903.1:p.Pro375= | |
| XM_017004416.1:c.729A>T (FANCL) | XP_016859905.1:p.Pro243= | |
| XM_017004858.2:c.*804T>A (VRK2) | XP_016860347.1:n.*804T>A | |
| XM_017004859.2:c.*427T>A (VRK2) | XP_016860348.1:n.*427T>A | |
| XM_017004860.2:c.*427T>A (VRK2) | XP_016860349.1:n.*427T>A | |
| XM_017004861.2:c.*427T>A (VRK2) | XP_016860350.1:n.*427T>A | |
| XM_017004862.2:c.*427T>A (VRK2) | XP_016860351.1:n.*427T>A | |
| XM_017004863.2:c.*427T>A (VRK2) | XP_016860352.1:n.*427T>A | |
| XM_017004864.2:c.*804T>A (VRK2) | XP_016860353.1:n.*804T>A | |
| XM_017004865.1:c.*812T>A (VRK2) | XP_016860354.1:n.*812T>A | |
| XM_017004866.1:c.*812T>A (VRK2) | XP_016860355.1:n.*812T>A | |
| XR_001738802.2:n.1026A>T (FANCL) | ||
| XR_001738803.2:n.1011A>T (FANCL) | ||
| XR_002959309.1:n.1722A>T (FANCL) | ||
| XR_939692.2:n.1071A>T (FANCL) | ||
| NM_001374615.1:c.1125A>T (FANCL) | NP_001361544.1:p.Pro375= | |
| NM_018062.4:c.1080A>T (FANCL) MANE Select | NP_060532.2:p.Pro360= | |
| NR_164659.1:n.961A>T (FANCL) |