UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160186_58160187delinsAT , CM000664.2:g.58160186_58160187delinsAT | GRCh38 |
| NC_000002.11:g.58387321_58387322delinsAT , CM000664.1:g.58387321_58387322delinsAT | GRCh37 |
| NC_000002.10:g.58240825_58240826delinsAT | NCBI36 |
| NG_007418.1:g.86193_86194delinsAT , LRG_501:g.86193_86194delinsAT | |
| NG_029717.2:g.257446_257447delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402135.8:c.1036-8_1036-7delinsAT (FANCL) | ENSP00000385021.3:n.1036-8_1036-7delinsAT | |
| ENST00000403295.8:c.937-8_937-7delinsAT (FANCL) | ENSP00000386097.3:n.937-8_937-7delinsAT | |
| ENST00000403676.6:c.*584-8_*584-7delinsAT (FANCL) | ENSP00000384046.2:n.*584-8_*584-7delinsAT | |
| ENST00000417361.2:c.*599-8_*599-7delinsAT (FANCL) | ENSP00000389448.2:n.*599-8_*599-7delinsAT | |
| ENST00000427708.7:c.1066-8_1066-7delinsAT (FANCL) | ENSP00000400969.3:n.1066-8_1066-7delinsAT | |
| ENST00000446381.6:c.577-8_577-7delinsAT (FANCL) | ENSP00000390991.2:n.577-8_577-7delinsAT | |
| ENST00000449070.6:c.844-8_844-7delinsAT (FANCL) | ENSP00000401280.2:n.844-8_844-7delinsAT | |
| ENST00000470506.2:n.1535-8_1535-7delinsAT (FANCL) | ||
| ENST00000696305.1:c.964-8_964-7delinsAT (FANCL) | ENSP00000512543.1:n.964-8_964-7delinsAT | |
| ENST00000696306.1:c.*911-8_*911-7delinsAT (FANCL) | ENSP00000512544.1:n.*911-8_*911-7delinsAT | |
| ENST00000696307.1:c.1006-8_1006-7delinsAT (FANCL) | ENSP00000512545.1:n.1006-8_1006-7delinsAT | |
| ENST00000696314.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512552.1:n.*74-8_*74-7delinsAT | |
| ENST00000696315.1:c.*584-8_*584-7delinsAT (FANCL) | ENSP00000512553.1:n.*584-8_*584-7delinsAT | |
| ENST00000696316.1:c.904-8_904-7delinsAT (FANCL) | ENSP00000512554.1:n.904-8_904-7delinsAT | |
| ENST00000696317.1:c.939-8_939-7delinsAT (FANCL) | ENSP00000512555.1:n.939-8_939-7delinsAT | |
| ENST00000696318.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512556.1:n.*74-8_*74-7delinsAT | |
| ENST00000696319.1:c.979-8_979-7delinsAT (FANCL) | ENSP00000512557.1:n.979-8_979-7delinsAT | |
| ENST00000696320.1:n.2700-8_2700-7delinsAT (FANCL) | ||
| ENST00000696324.1:c.*471-8_*471-7delinsAT (FANCL) | ENSP00000512561.1:n.*471-8_*471-7delinsAT | |
| ENST00000696325.1:n.4104-8_4104-7delinsAT (FANCL) | ||
| ENST00000696326.1:c.1081-8_1081-7delinsAT (FANCL) | ENSP00000512562.1:n.1081-8_1081-7delinsAT | |
| ENST00000696338.1:n.1135-8_1135-7delinsAT (FANCL) | ||
| ENST00000696339.1:n.2593-8_2593-7delinsAT (FANCL) | ||
| ENST00000696340.1:n.3247-8_3247-7delinsAT (FANCL) | ||
| ENST00000696341.1:n.1529-8_1529-7delinsAT (FANCL) | ||
| ENST00000696342.1:c.*2251-8_*2251-7delinsAT (FANCL) | ENSP00000512569.1:n.*2251-8_*2251-7delinsAT | |
| ENST00000696343.1:n.2880-8_2880-7delinsAT (FANCL) | ||
| ENST00000696344.1:c.*735-8_*735-7delinsAT (FANCL) | ENSP00000512570.1:n.*735-8_*735-7delinsAT | |
| ENST00000696358.1:n.3694-8_3694-7delinsAT (FANCL) | ||
| ENST00000696359.1:n.3371-8_3371-7delinsAT (FANCL) | ||
| ENST00000696360.1:n.1806-8_1806-7delinsAT (FANCL) | ||
| ENST00000696361.1:c.*1024-8_*1024-7delinsAT (FANCL) | ENSP00000512579.1:n.*1024-8_*1024-7delinsAT | |
| ENST00000696362.1:c.*471-8_*471-7delinsAT (FANCL) | ENSP00000512580.1:n.*471-8_*471-7delinsAT | |
| ENST00000696363.1:n.2798-8_2798-7delinsAT (FANCL) | ||
| ENST00000696364.1:n.1414-8_1414-7delinsAT (FANCL) | ||
| ENST00000696371.1:c.1012-8_1012-7delinsAT (FANCL) | ENSP00000512586.1:n.1012-8_1012-7delinsAT | |
| ENST00000696372.1:n.2110-8_2110-7delinsAT (FANCL) | ||
| ENST00000696373.1:c.*2251-8_*2251-7delinsAT (FANCL) | ENSP00000512587.1:n.*2251-8_*2251-7delinsAT | |
| ENST00000696374.1:c.*389-8_*389-7delinsAT (FANCL) | ENSP00000512588.1:n.*389-8_*389-7delinsAT | |
| ENST00000696375.1:n.7954-8_7954-7delinsAT (FANCL) | ||
| ENST00000696376.1:n.6807-8_6807-7delinsAT (FANCL) | ||
| ENST00000696378.1:c.*1039-8_*1039-7delinsAT (FANCL) | ENSP00000512589.1:n.*1039-8_*1039-7delinsAT | |
| ENST00000696394.1:n.4523-8_4523-7delinsAT (FANCL) | ||
| ENST00000696395.1:n.4462-8_4462-7delinsAT (FANCL) | ||
| ENST00000696396.1:n.2175-8_2175-7delinsAT (FANCL) | ||
| ENST00000696397.1:n.3146-8_3146-7delinsAT (FANCL) | ||
| ENST00000696398.1:c.*168-8_*168-7delinsAT (FANCL) | ENSP00000512604.1:n.*168-8_*168-7delinsAT | |
| ENST00000696399.1:n.2295-8_2295-7delinsAT (FANCL) | ||
| ENST00000696400.1:c.*785-8_*785-7delinsAT (FANCL) | ENSP00000512605.1:n.*785-8_*785-7delinsAT | |
| ENST00000696409.1:c.*538-8_*538-7delinsAT (FANCL) | ENSP00000512610.1:n.*538-8_*538-7delinsAT | |
| ENST00000696410.1:c.*502-8_*502-7delinsAT (FANCL) | ENSP00000512611.1:n.*502-8_*502-7delinsAT | |
| ENST00000696411.1:n.726-8_726-7delinsAT (FANCL) | ||
| ENST00000696412.1:n.1520-8_1520-7delinsAT (FANCL) | ||
| ENST00000696413.1:n.1023-8_1023-7delinsAT (FANCL) | ||
| ENST00000696414.1:n.2067-8_2067-7delinsAT (FANCL) | ||
| ENST00000696415.1:c.954-8_954-7delinsAT (FANCL) | ENSP00000512612.1:n.954-8_954-7delinsAT | |
| ENST00000696416.1:n.1029-8_1029-7delinsAT (FANCL) | ||
| ENST00000696432.1:n.3480-8_3480-7delinsAT (FANCL) | ||
| ENST00000696433.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512627.1:n.*74-8_*74-7delinsAT | |
| ENST00000696434.1:c.859-8_859-7delinsAT (FANCL) | ENSP00000512628.1:n.859-8_859-7delinsAT | |
| ENST00000696435.1:c.*168-8_*168-7delinsAT (FANCL) | ENSP00000512629.1:n.*168-8_*168-7delinsAT | |
| ENST00000696436.1:n.975-8_975-7delinsAT (FANCL) | ||
| ENST00000696437.1:n.1438-8_1438-7delinsAT (FANCL) | ||
| ENST00000696438.1:c.*854-8_*854-7delinsAT (FANCL) | ENSP00000512630.1:n.*854-8_*854-7delinsAT | |
| ENST00000696439.1:n.3070-8_3070-7delinsAT (FANCL) | ||
| ENST00000696440.1:n.2057-8_2057-7delinsAT (FANCL) | ||
| ENST00000696454.1:c.*372-8_*372-7delinsAT (FANCL) | ENSP00000512641.1:n.*372-8_*372-7delinsAT | |
| ENST00000696455.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512642.1:n.*74-8_*74-7delinsAT | |
| ENST00000696456.1:n.531-8_531-7delinsAT (FANCL) | ||
| ENST00000696457.1:c.*1792-8_*1792-7delinsAT (FANCL) | ENSP00000512643.1:n.*1792-8_*1792-7delinsAT | |
| ENST00000696458.1:c.882-8_882-7delinsAT (FANCL) | ENSP00000512644.1:n.882-8_882-7delinsAT | |
| ENST00000696459.1:c.*456-8_*456-7delinsAT (FANCL) | ENSP00000512645.1:n.*456-8_*456-7delinsAT | |
| ENST00000696460.1:n.1518-8_1518-7delinsAT (FANCL) | ||
| ENST00000696467.1:c.*517-8_*517-7delinsAT (FANCL) | ENSP00000512648.1:n.*517-8_*517-7delinsAT | |
| ENST00000696468.1:c.*513-8_*513-7delinsAT (FANCL) | ENSP00000512649.1:n.*513-8_*513-7delinsAT | |
| ENST00000696469.1:c.*168-8_*168-7delinsAT (FANCL) | ENSP00000512650.1:n.*168-8_*168-7delinsAT | |
| ENST00000696470.1:n.3189-8_3189-7delinsAT (FANCL) | ||
| ENST00000696471.1:n.691-8_691-7delinsAT (FANCL) | ||
| ENST00000696472.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512651.1:n.*74-8_*74-7delinsAT | |
| ENST00000696473.1:c.*704-8_*704-7delinsAT (FANCL) | ENSP00000512652.1:n.*704-8_*704-7delinsAT | |
| ENST00000696474.1:n.897-8_897-7delinsAT (FANCL) | ||
| ENST00000696475.1:n.2529-8_2529-7delinsAT (FANCL) | ||
| ENST00000696492.1:c.*686-8_*686-7delinsAT (FANCL) | ENSP00000512662.1:n.*686-8_*686-7delinsAT | |
| ENST00000696493.1:c.*869-8_*869-7delinsAT (FANCL) | ENSP00000512663.1:n.*869-8_*869-7delinsAT | |
| ENST00000696494.1:n.1053-8_1053-7delinsAT (FANCL) | ||
| ENST00000696495.1:c.*767-8_*767-7delinsAT (FANCL) | ENSP00000512664.1:n.*767-8_*767-7delinsAT | |
| ENST00000696496.1:n.1560-8_1560-7delinsAT (FANCL) | ||
| ENST00000696497.1:n.4318-8_4318-7delinsAT (FANCL) | ||
| ENST00000696498.1:n.1780-8_1780-7delinsAT (FANCL) | ||
| ENST00000696499.1:c.*458-8_*458-7delinsAT (FANCL) | ENSP00000512665.1:n.*458-8_*458-7delinsAT | |
| ENST00000696508.1:c.*576-8_*576-7delinsAT (FANCL) | ENSP00000512674.1:n.*576-8_*576-7delinsAT | |
| ENST00000696509.1:c.*898-8_*898-7delinsAT (FANCL) | ENSP00000512675.1:n.*898-8_*898-7delinsAT | |
| ENST00000696510.1:c.493-8_493-7delinsAT (FANCL) | ENSP00000512676.1:n.493-8_493-7delinsAT | |
| ENST00000696527.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512690.1:n.*74-8_*74-7delinsAT | |
| ENST00000696528.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512691.1:n.*74-8_*74-7delinsAT | |
| ENST00000696529.1:n.884-8_884-7delinsAT (FANCL) | ||
| ENST00000696530.1:c.817-8_817-7delinsAT (FANCL) | ENSP00000512692.1:n.817-8_817-7delinsAT | |
| ENST00000696531.1:c.*553-8_*553-7delinsAT (FANCL) | ENSP00000512693.1:n.*553-8_*553-7delinsAT | |
| ENST00000696532.1:n.2168-8_2168-7delinsAT (FANCL) | ||
| ENST00000696542.1:n.959-8_959-7delinsAT (FANCL) | ||
| ENST00000696543.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512703.1:n.*74-8_*74-7delinsAT | |
| ENST00000696544.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512704.1:n.*74-8_*74-7delinsAT | |
| ENST00000696545.1:c.*689-8_*689-7delinsAT (FANCL) | ENSP00000512705.1:n.*689-8_*689-7delinsAT | |
| ENST00000696546.1:c.*800-8_*800-7delinsAT (FANCL) | ENSP00000512706.1:n.*800-8_*800-7delinsAT | |
| ENST00000696547.1:c.1009-8_1009-7delinsAT (FANCL) | ENSP00000512707.1:n.1009-8_1009-7delinsAT | |
| ENST00000696548.1:c.*1225-8_*1225-7delinsAT (FANCL) | ENSP00000512708.1:n.*1225-8_*1225-7delinsAT | |
| ENST00000696564.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512722.1:n.*74-8_*74-7delinsAT | |
| ENST00000696565.1:c.*74-8_*74-7delinsAT (FANCL) | ENSP00000512723.1:n.*74-8_*74-7delinsAT | |
| ENST00000696566.1:n.3609-8_3609-7delinsAT (FANCL) | ||
| ENST00000696567.1:c.916-8_916-7delinsAT (FANCL) | ENSP00000512724.1:n.916-8_916-7delinsAT | |
| ENST00000696568.1:n.439_440delinsAT (FANCL) | ||
| ENST00000696569.1:n.1130-8_1130-7delinsAT (FANCL) | ||
| ENST00000696570.1:c.*343-8_*343-7delinsAT (FANCL) | ENSP00000512725.1:n.*343-8_*343-7delinsAT | |
| ENST00000696619.1:n.2577-8_2577-7delinsAT (FANCL) | ||
| ENST00000696620.1:c.613-8_613-7delinsAT (FANCL) | ENSP00000512759.1:n.613-8_613-7delinsAT | |
| ENST00000696621.1:c.*168-8_*168-7delinsAT (FANCL) | ENSP00000512760.1:n.*168-8_*168-7delinsAT | |
| ENST00000696622.1:n.2752-8_2752-7delinsAT (FANCL) | ||
| ENST00000696623.1:n.987-8_987-7delinsAT (FANCL) | ||
| ENST00000696624.1:c.952-8_952-7delinsAT (FANCL) | ENSP00000512761.1:n.952-8_952-7delinsAT | |
| ENST00000696625.1:c.*471-8_*471-7delinsAT (FANCL) | ENSP00000512762.1:n.*471-8_*471-7delinsAT | |
| ENST00000696634.1:c.734-8_734-7delinsAT (FANCL) | ENSP00000512770.1:n.734-8_734-7delinsAT | |
| ENST00000696635.1:c.997-8_997-7delinsAT (FANCL) | ENSP00000512771.1:n.997-8_997-7delinsAT | |
| ENST00000696636.1:n.3473-8_3473-7delinsAT (FANCL) | ||
| ENST00000696637.1:n.8094-8_8094-7delinsAT (FANCL) | ||
| ENST00000696638.1:n.1036-8_1036-7delinsAT (FANCL) | ||
| ENST00000696639.1:n.3099-8_3099-7delinsAT (FANCL) | ||
| ENST00000233741.9:c.1021-8_1021-7delinsAT (FANCL) MANE Select | ENSP00000233741.5:n.1021-8_1021-7delinsAT | |
| ENST00000233741.8:c.1021-8_1021-7delinsAT (FANCL) | ENSP00000233741.4:n.1021-8_1021-7delinsAT | |
| ENST00000402135.7:c.1036-8_1036-7delinsAT (FANCL) | ENSP00000385021.3:n.1036-8_1036-7delinsAT | |
| ENST00000403295.7:c.937-8_937-7delinsAT (FANCL) | ENSP00000386097.3:n.937-8_937-7delinsAT | |
| ENST00000403676.5:c.670-8_670-7delinsAT (FANCL) | ENSP00000384046.1:n.670-8_670-7delinsAT | |
| ENST00000449070.5:c.844-8_844-7delinsAT (FANCL) | ENSP00000401280.1:n.844-8_844-7delinsAT | |
| NM_001114636.1:c.1036-8_1036-7delinsAT , LRG_501t1:c.1036-8_1036-7delinsAT (FANCL) | NP_001108108.1:n.1036-8_1036-7delinsAT | |
| NM_018062.3:c.1021-8_1021-7delinsAT , LRG_501t2:c.1021-8_1021-7delinsAT (FANCL) | NP_060532.2:n.1021-8_1021-7delinsAT | |
| XM_005264395.2:c.1021-8_1021-7delinsAT (FANCL) | XP_005264452.1:n.1021-8_1021-7delinsAT | |
| XM_005264397.3:c.670-8_670-7delinsAT (FANCL) | XP_005264454.1:n.670-8_670-7delinsAT | |
| XM_011532939.1:c.1081-8_1081-7delinsAT (FANCL) | XP_011531241.1:n.1081-8_1081-7delinsAT | |
| XM_011532940.1:c.1066-8_1066-7delinsAT (FANCL) | XP_011531242.1:n.1066-8_1066-7delinsAT | |
| XM_011532941.1:c.1081-8_1081-7delinsAT (FANCL) | XP_011531243.1:n.1081-8_1081-7delinsAT | |
| XM_011532942.1:c.1036-8_1036-7delinsAT (FANCL) | XP_011531244.1:n.1036-8_1036-7delinsAT | |
| XM_011532943.1:c.1282-8_1282-7delinsAT (FANCL) | XP_011531245.1:n.1282-8_1282-7delinsAT | |
| XM_011532944.1:c.730-8_730-7delinsAT (FANCL) | XP_011531246.1:n.730-8_730-7delinsAT | |
| XM_011532945.1:c.685-8_685-7delinsAT (FANCL) | XP_011531247.1:n.685-8_685-7delinsAT | |
| XR_939692.1:n.1020-8_1020-7delinsAT (FANCL) | ||
| NR_156742.1:n.810-8_810-7delinsAT (FANCL) | ||
| XM_005264395.4:c.1021-8_1021-7delinsAT (FANCL) | XP_005264452.1:n.1021-8_1021-7delinsAT | |
| XM_005264540.4:c.*493_*494delinsAT (VRK2) | XP_005264597.1:n.*493_*494delinsAT | |
| XM_006712090.4:c.*870_*871delinsAT (VRK2) | XP_006712153.1:n.*870_*871delinsAT | |
| XM_006712092.4:c.*493_*494delinsAT (VRK2) | XP_006712155.1:n.*493_*494delinsAT | |
| XM_006712093.4:c.*493_*494delinsAT (VRK2) | XP_006712156.1:n.*493_*494delinsAT | |
| XM_011532939.3:c.1081-8_1081-7delinsAT (FANCL) | XP_011531241.1:n.1081-8_1081-7delinsAT | |
| XM_011532940.3:c.1066-8_1066-7delinsAT (FANCL) | XP_011531242.1:n.1066-8_1066-7delinsAT | |
| XM_011532941.2:c.1081-8_1081-7delinsAT (FANCL) | XP_011531243.1:n.1081-8_1081-7delinsAT | |
| XM_011532942.3:c.1036-8_1036-7delinsAT (FANCL) | XP_011531244.1:n.1036-8_1036-7delinsAT | |
| XM_011532944.2:c.730-8_730-7delinsAT (FANCL) | XP_011531246.1:n.730-8_730-7delinsAT | |
| XM_011532945.2:c.685-8_685-7delinsAT (FANCL) | XP_011531247.1:n.685-8_685-7delinsAT | |
| XM_011533092.3:c.*493_*494delinsAT (VRK2) | XP_011531394.1:n.*493_*494delinsAT | |
| XM_017004414.2:c.1066-8_1066-7delinsAT (FANCL) | XP_016859903.1:n.1066-8_1066-7delinsAT | |
| XM_017004416.1:c.670-8_670-7delinsAT (FANCL) | XP_016859905.1:n.670-8_670-7delinsAT | |
| XM_017004858.2:c.*870_*871delinsAT (VRK2) | XP_016860347.1:n.*870_*871delinsAT | |
| XM_017004859.2:c.*493_*494delinsAT (VRK2) | XP_016860348.1:n.*493_*494delinsAT | |
| XM_017004860.2:c.*493_*494delinsAT (VRK2) | XP_016860349.1:n.*493_*494delinsAT | |
| XM_017004861.2:c.*493_*494delinsAT (VRK2) | XP_016860350.1:n.*493_*494delinsAT | |
| XM_017004862.2:c.*493_*494delinsAT (VRK2) | XP_016860351.1:n.*493_*494delinsAT | |
| XM_017004863.2:c.*493_*494delinsAT (VRK2) | XP_016860352.1:n.*493_*494delinsAT | |
| XM_017004864.2:c.*870_*871delinsAT (VRK2) | XP_016860353.1:n.*870_*871delinsAT | |
| XM_017004865.1:c.*878_*879delinsAT (VRK2) | XP_016860354.1:n.*878_*879delinsAT | |
| XM_017004866.1:c.*878_*879delinsAT (VRK2) | XP_016860355.1:n.*878_*879delinsAT | |
| XR_001738802.2:n.967-8_967-7delinsAT (FANCL) | ||
| XR_001738803.2:n.952-8_952-7delinsAT (FANCL) | ||
| XR_002959309.1:n.1663-8_1663-7delinsAT (FANCL) | ||
| XR_939692.2:n.1012-8_1012-7delinsAT (FANCL) | ||
| NM_001374615.1:c.1066-8_1066-7delinsAT (FANCL) | NP_001361544.1:n.1066-8_1066-7delinsAT | |
| NM_018062.4:c.1021-8_1021-7delinsAT (FANCL) MANE Select | NP_060532.2:n.1021-8_1021-7delinsAT | |
| NR_164659.1:n.902-8_902-7delinsAT (FANCL) |