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.
Linked Data
gnomAD v4:
11-17428024-CCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428025_17428027del , CM000673.2:g.17428025_17428027del | GRCh38 |
| NC_000011.9:g.17449572_17449574del , CM000673.1:g.17449572_17449574del | GRCh37 |
| NC_000011.8:g.17406148_17406150del | NCBI36 |
| NG_008867.1:g.53876_53878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1710-85_1710-83del | ||
| ENST00000529967.6:n.300-85_300-83del | ||
| ENST00000642611.2:n.2107-85_2107-83del | ||
| ENST00000682051.1:n.2054-85_2054-83del | ||
| ENST00000682110.1:n.2107-85_2107-83del | ||
| ENST00000682140.1:c.2038-85_2038-83del | ENSP00000507829.1:n.2038-85_2038-83del | |
| ENST00000682185.1:n.3346-85_3346-83del | ||
| ENST00000682204.1:c.*179-85_*179-83del | ENSP00000507094.1:n.*179-85_*179-83del | |
| ENST00000682215.1:n.2107-85_2107-83del | ||
| ENST00000682288.1:c.*469-85_*469-83del | ENSP00000507506.1:n.*469-85_*469-83del | |
| ENST00000682442.1:n.2228-85_2228-83del | ||
| ENST00000682528.1:n.2107-85_2107-83del | ||
| ENST00000682673.1:n.2054-85_2054-83del | ||
| ENST00000682805.1:n.2107-85_2107-83del | ||
| ENST00000682965.1:c.2038-85_2038-83del | ENSP00000508229.1:n.2038-85_2038-83del | |
| ENST00000683093.1:n.2209-85_2209-83del | ||
| ENST00000683136.1:c.2038-85_2038-83del | ENSP00000507768.1:n.2038-85_2038-83del | |
| ENST00000683153.1:n.2266-85_2266-83del | ||
| ENST00000683253.1:n.3123-85_3123-83del | ||
| ENST00000683365.1:n.2209-85_2209-83del | ||
| ENST00000683377.1:n.2107-85_2107-83del | ||
| ENST00000683456.1:c.2038-85_2038-83del | ENSP00000508318.1:n.2038-85_2038-83del | |
| ENST00000683522.1:n.2107-85_2107-83del | ||
| ENST00000683562.1:c.*210-85_*210-83del | ENSP00000508265.1:n.*210-85_*210-83del | |
| ENST00000683693.1:n.2107-85_2107-83del | ||
| ENST00000683725.1:c.2041-85_2041-83del | ENSP00000507496.1:n.2041-85_2041-83del | |
| ENST00000684010.1:n.2107-85_2107-83del | ||
| ENST00000684157.1:n.2107-85_2107-83del | ||
| ENST00000684253.1:n.2013-85_2013-83del | ||
| ENST00000684288.1:c.*210-85_*210-83del | ENSP00000507143.1:n.*210-85_*210-83del | |
| ENST00000684313.1:n.1724-11065_1724-11063del | ||
| ENST00000684332.1:n.2180-85_2180-83del | ||
| ENST00000684371.1:n.2213-85_2213-83del | ||
| ENST00000684404.1:n.2107-85_2107-83del | ||
| ENST00000684442.1:n.2107-85_2107-83del | ||
| ENST00000684555.1:c.*250-85_*250-83del | ENSP00000507705.1:n.*250-85_*250-83del | |
| ENST00000684571.1:c.1882-85_1882-83del | ENSP00000506935.1:n.1882-85_1882-83del | |
| ENST00000684593.1:c.*1746-85_*1746-83del | ENSP00000507005.1:n.*1746-85_*1746-83del | |
| ENST00000684711.1:c.*437-85_*437-83del | ENSP00000506841.1:n.*437-85_*437-83del | |
| ENST00000302539.9:c.2041-85_2041-83del | ENSP00000303960.4:n.2041-85_2041-83del | |
| ENST00000389817.8:c.2041-85_2041-83del MANE Select | ENSP00000374467.4:n.2041-85_2041-83del | |
| ENST00000532728.6:c.1622-85_1622-83del | ||
| ENST00000642271.1:c.2038-85_2038-83del | ENSP00000493749.1:n.2038-85_2038-83del | |
| ENST00000642579.1:c.122-85_122-83del | ||
| ENST00000642611.1:n.1992-85_1992-83del | ||
| ENST00000642902.1:c.1876-85_1876-83del | ||
| ENST00000643260.1:c.2038-85_2038-83del | ENSP00000494450.1:n.2038-85_2038-83del | |
| ENST00000643562.1:c.*17-85_*17-83del | ENSP00000496124.1:n.*17-85_*17-83del | |
| ENST00000644447.1:c.394-85_394-83del | ENSP00000496282.1:n.394-85_394-83del | |
| ENST00000644472.1:c.*402-85_*402-83del | ENSP00000495378.1:n.*402-85_*402-83del | |
| ENST00000644484.1:c.*250-85_*250-83del | ENSP00000493558.1:n.*250-85_*250-83del | |
| ENST00000644542.1:c.*1743-85_*1743-83del | ENSP00000495532.1:n.*1743-85_*1743-83del | |
| ENST00000644649.1:c.1211-85_1211-83del | ||
| ENST00000644675.1:c.*210-85_*210-83del | ENSP00000494567.1:n.*210-85_*210-83del | |
| ENST00000644757.1:c.*343-85_*343-83del | ENSP00000495085.1:n.*343-85_*343-83del | |
| ENST00000644772.1:c.2107-85_2107-83del | ENSP00000494321.1:n.2107-85_2107-83del | |
| ENST00000645076.1:c.1293-85_1293-83del | ||
| ENST00000645744.1:c.*402-85_*402-83del | ENSP00000494564.1:n.*402-85_*402-83del | |
| ENST00000645760.1:c.2316-85_2316-83del | ||
| ENST00000645884.1:c.2038-85_2038-83del | ENSP00000495516.1:n.2038-85_2038-83del | |
| ENST00000646003.1:c.*179-85_*179-83del | ENSP00000495259.1:n.*179-85_*179-83del | |
| ENST00000646207.1:c.*402-85_*402-83del | ENSP00000495025.1:n.*402-85_*402-83del | |
| ENST00000646276.1:c.*311-85_*311-83del | ENSP00000496070.1:n.*311-85_*311-83del | |
| ENST00000646592.1:c.1264-85_1264-83del | ||
| ENST00000646902.1:c.2038-85_2038-83del | ENSP00000494101.1:n.2038-85_2038-83del | |
| ENST00000646993.1:c.*437-85_*437-83del | ENSP00000493720.1:n.*437-85_*437-83del | |
| ENST00000647013.1:c.2044-85_2044-83del | ENSP00000496741.1:n.2044-85_2044-83del | |
| ENST00000647015.1:c.1789-85_1789-83del | ENSP00000495389.1:n.1789-85_1789-83del | |
| ENST00000647086.1:c.*1768-85_*1768-83del | ENSP00000493677.1:n.*1768-85_*1768-83del | |
| ENST00000647158.1:c.*179-85_*179-83del | ENSP00000495744.1:n.*179-85_*179-83del | |
| ENST00000302539.8:c.2041-85_2041-83del | ENSP00000303960.4:n.2041-85_2041-83del | |
| ENST00000389817.7:c.2041-85_2041-83del | ENSP00000374467.3:n.2041-85_2041-83del | |
| ENST00000527905.5:c.2011-85_2011-83del | ENSP00000431653.1:n.2011-85_2011-83del | |
| ENST00000531911.1:n.67_69del | ||
| NM_000352.4:c.2041-85_2041-83del | NP_000343.2:n.2041-85_2041-83del | |
| NM_001287174.1:c.2041-85_2041-83del | NP_001274103.1:n.2041-85_2041-83del | |
| XM_011520331.1:c.2038-85_2038-83del | XP_011518633.1:n.2038-85_2038-83del | |
| XM_011520332.1:c.2041-85_2041-83del | XP_011518634.1:n.2041-85_2041-83del | |
| XM_011520333.1:c.538-85_538-83del | XP_011518635.1:n.538-85_538-83del | |
| XM_011520334.1:c.2041-85_2041-83del | XP_011518636.1:n.2041-85_2041-83del | |
| XR_930890.1:n.2104-85_2104-83del | ||
| XR_930891.1:n.2104-85_2104-83del | ||
| XR_930892.1:n.2104-85_2104-83del | ||
| XR_930893.1:n.2104-85_2104-83del | ||
| NM_001351295.1:c.2107-85_2107-83del | NP_001338224.1:n.2107-85_2107-83del | |
| NM_001351296.1:c.2038-85_2038-83del | NP_001338225.1:n.2038-85_2038-83del | |
| NM_001351297.1:c.2038-85_2038-83del | NP_001338226.1:n.2038-85_2038-83del | |
| NR_147094.1:n.2107-85_2107-83del | ||
| XM_017018197.2:c.2107-85_2107-83del | XP_016873686.1:n.2107-85_2107-83del | |
| XM_017018199.1:c.2104-85_2104-83del | XP_016873688.1:n.2104-85_2104-83del | |
| XM_017018201.2:c.2107-85_2107-83del | XP_016873690.1:n.2107-85_2107-83del | |
| XM_017018202.1:c.604-85_604-83del | XP_016873691.1:n.604-85_604-83del | |
| XM_017018204.1:c.-3-85_-3-83del | XP_016873693.1:n.-3-85_-3-83del | |
| XM_024448668.1:c.406-85_406-83del | XP_024304436.1:n.406-85_406-83del | |
| XR_001747945.2:n.2179-85_2179-83del | ||
| XR_001747946.2:n.2113-85_2113-83del | ||
| XR_002957189.1:n.2179-85_2179-83del | ||
| NM_000352.6:c.2041-85_2041-83del MANE Select | NP_000343.2:n.2041-85_2041-83del | |
| NM_001287174.2:c.2041-85_2041-83del | NP_001274103.1:n.2041-85_2041-83del | |
| NM_001351295.2:c.2107-85_2107-83del | NP_001338224.1:n.2107-85_2107-83del | |
| NM_001351296.2:c.2038-85_2038-83del | NP_001338225.1:n.2038-85_2038-83del | |
| NM_001351297.2:c.2038-85_2038-83del | NP_001338226.1:n.2038-85_2038-83del | |
| NR_147094.2:n.2107-85_2107-83del | ||
| NM_001287174.3:c.2041-85_2041-83del | NP_001274103.1:n.2041-85_2041-83del |