Linked Data
dbSNP Id:
rs896036090
gnomAD v2:
11-17429646-TGTTTTCTTTGCTTA-T
gnomAD v3:
11-17408099-TGTTTTCTTTGCTTA-T
gnomAD v4:
11-17408099-TGTTTTCTTTGCTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17408111_17408124del , CM000673.2:g.17408111_17408124del | GRCh38 |
| NC_000011.9:g.17429658_17429671del , CM000673.1:g.17429658_17429671del | GRCh37 |
| NC_000011.8:g.17386234_17386247del | NCBI36 |
| NG_008867.1:g.73790_73803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2489+279_2489+292del | ||
| ENST00000529967.6:n.1079+279_1079+292del | ||
| ENST00000532220.2:n.552+279_552+292del | ||
| ENST00000642611.2:n.2889+279_2889+292del | ||
| ENST00000682051.1:n.2836+279_2836+292del | ||
| ENST00000682110.1:n.2889+279_2889+292del | ||
| ENST00000682140.1:c.2817+279_2817+292del | ENSP00000507829.1:n.2817+279_2817+292del | |
| ENST00000682185.1:n.4125+279_4125+292del | ||
| ENST00000682204.1:c.*958+279_*958+292del | ENSP00000507094.1:n.*958+279_*958+292del | |
| ENST00000682215.1:n.2886+279_2886+292del | ||
| ENST00000682288.1:c.*1251+279_*1251+292del | ENSP00000507506.1:n.*1251+279_*1251+292del | |
| ENST00000682442.1:n.3010+279_3010+292del | ||
| ENST00000682528.1:n.2886+279_2886+292del | ||
| ENST00000682673.1:n.2833+279_2833+292del | ||
| ENST00000682805.1:n.2886+279_2886+292del | ||
| ENST00000682965.1:c.2817+279_2817+292del | ENSP00000508229.1:n.2817+279_2817+292del | |
| ENST00000683093.1:n.2988+279_2988+292del | ||
| ENST00000683136.1:c.2817+279_2817+292del | ENSP00000507768.1:n.2817+279_2817+292del | |
| ENST00000683153.1:n.3045+279_3045+292del | ||
| ENST00000683365.1:n.2991+279_2991+292del | ||
| ENST00000683377.1:n.2889+279_2889+292del | ||
| ENST00000683456.1:c.2820+279_2820+292del | ENSP00000508318.1:n.2820+279_2820+292del | |
| ENST00000683522.1:n.2889+279_2889+292del | ||
| ENST00000683562.1:c.*989+279_*989+292del | ENSP00000508265.1:n.*989+279_*989+292del | |
| ENST00000683693.1:n.2886+279_2886+292del | ||
| ENST00000683725.1:c.2820+279_2820+292del | ENSP00000507496.1:n.2820+279_2820+292del | |
| ENST00000684010.1:n.2804+279_2804+292del | ||
| ENST00000684157.1:n.2889+279_2889+292del | ||
| ENST00000684253.1:n.2792+279_2792+292del | ||
| ENST00000684288.1:c.*992+279_*992+292del | ENSP00000507143.1:n.*992+279_*992+292del | |
| ENST00000684313.1:n.2321+279_2321+292del | ||
| ENST00000684332.1:n.2962+279_2962+292del | ||
| ENST00000684371.1:n.2995+279_2995+292del | ||
| ENST00000684404.1:n.2886+279_2886+292del | ||
| ENST00000684442.1:n.2889+279_2889+292del | ||
| ENST00000684555.1:c.*1032+279_*1032+292del | ENSP00000507705.1:n.*1032+279_*1032+292del | |
| ENST00000684571.1:c.2661+279_2661+292del | ENSP00000506935.1:n.2661+279_2661+292del | |
| ENST00000684593.1:c.*2525+279_*2525+292del | ENSP00000507005.1:n.*2525+279_*2525+292del | |
| ENST00000684711.1:c.*1216+279_*1216+292del | ENSP00000506841.1:n.*1216+279_*1216+292del | |
| ENST00000302539.9:c.2823+279_2823+292del | ENSP00000303960.4:n.2823+279_2823+292del | |
| ENST00000389817.8:c.2820+279_2820+292del MANE Select | ENSP00000374467.4:n.2820+279_2820+292del | |
| ENST00000642271.1:c.2817+279_2817+292del | ENSP00000493749.1:n.2817+279_2817+292del | |
| ENST00000642579.1:c.904+279_904+292del | ||
| ENST00000642611.1:n.2774+279_2774+292del | ||
| ENST00000642902.1:c.2655+279_2655+292del | ||
| ENST00000643260.1:c.2820+279_2820+292del | ENSP00000494450.1:n.2820+279_2820+292del | |
| ENST00000643562.1:c.*796+279_*796+292del | ENSP00000496124.1:n.*796+279_*796+292del | |
| ENST00000643925.1:c.864+279_864+292del | ||
| ENST00000644447.1:c.1176+279_1176+292del | ENSP00000496282.1:n.1176+279_1176+292del | |
| ENST00000644484.1:c.*1029+279_*1029+292del | ENSP00000493558.1:n.*1029+279_*1029+292del | |
| ENST00000644542.1:c.*2525+279_*2525+292del | ENSP00000495532.1:n.*2525+279_*2525+292del | |
| ENST00000644675.1:c.*992+279_*992+292del | ENSP00000494567.1:n.*992+279_*992+292del | |
| ENST00000644757.1:c.*1125+279_*1125+292del | ENSP00000495085.1:n.*1125+279_*1125+292del | |
| ENST00000644772.1:c.2886+279_2886+292del | ENSP00000494321.1:n.2886+279_2886+292del | |
| ENST00000645076.1:c.2072+279_2072+292del | ||
| ENST00000645744.1:c.*1184+279_*1184+292del | ENSP00000494564.1:n.*1184+279_*1184+292del | |
| ENST00000645760.1:c.3095+279_3095+292del | ||
| ENST00000645884.1:c.2820+279_2820+292del | ENSP00000495516.1:n.2820+279_2820+292del | |
| ENST00000646003.1:c.*876+279_*876+292del | ENSP00000495259.1:n.*876+279_*876+292del | |
| ENST00000646207.1:c.*1287+87_*1287+100del | ENSP00000495025.1:n.*1287+87_*1287+100del | |
| ENST00000646276.1:c.*1093+279_*1093+292del | ENSP00000496070.1:n.*1093+279_*1093+292del | |
| ENST00000646592.1:c.2046+279_2046+292del | ||
| ENST00000646902.1:c.2817+279_2817+292del | ENSP00000494101.1:n.2817+279_2817+292del | |
| ENST00000646993.1:c.*1216+279_*1216+292del | ENSP00000493720.1:n.*1216+279_*1216+292del | |
| ENST00000647013.1:c.2826+279_2826+292del | ENSP00000496741.1:n.2826+279_2826+292del | |
| ENST00000647015.1:c.2571+279_2571+292del | ENSP00000495389.1:n.2571+279_2571+292del | |
| ENST00000647086.1:c.*2550+279_*2550+292del | ENSP00000493677.1:n.*2550+279_*2550+292del | |
| ENST00000647158.1:c.*961+279_*961+292del | ENSP00000495744.1:n.*961+279_*961+292del | |
| ENST00000302539.8:c.2823+279_2823+292del | ENSP00000303960.4:n.2823+279_2823+292del | |
| ENST00000389817.7:c.2820+279_2820+292del | ENSP00000374467.3:n.2820+279_2820+292del | |
| ENST00000526921.5:n.504+279_504+292del | ||
| ENST00000527905.5:c.2790+279_2790+292del | ENSP00000431653.1:n.2790+279_2790+292del | |
| ENST00000529967.5:n.489+279_489+292del | ||
| NM_000352.4:c.2820+279_2820+292del | NP_000343.2:n.2820+279_2820+292del | |
| NM_001287174.1:c.2823+279_2823+292del | NP_001274103.1:n.2823+279_2823+292del | |
| XM_011520331.1:c.2820+279_2820+292del | XP_011518633.1:n.2820+279_2820+292del | |
| XM_011520332.1:c.2823+279_2823+292del | XP_011518634.1:n.2823+279_2823+292del | |
| XM_011520333.1:c.1320+279_1320+292del | XP_011518635.1:n.1320+279_1320+292del | |
| XM_011520334.1:c.2823+279_2823+292del | XP_011518636.1:n.2823+279_2823+292del | |
| XR_930890.1:n.2886+279_2886+292del | ||
| XR_930891.1:n.2886+279_2886+292del | ||
| XR_930892.1:n.2886+279_2886+292del | ||
| XR_930893.1:n.2883+279_2883+292del | ||
| NM_001351295.1:c.2886+279_2886+292del | NP_001338224.1:n.2886+279_2886+292del | |
| NM_001351296.1:c.2820+279_2820+292del | NP_001338225.1:n.2820+279_2820+292del | |
| NM_001351297.1:c.2817+279_2817+292del | NP_001338226.1:n.2817+279_2817+292del | |
| NR_147094.1:n.2889+279_2889+292del | ||
| XM_017018197.2:c.2889+279_2889+292del | XP_016873686.1:n.2889+279_2889+292del | |
| XM_017018199.1:c.2886+279_2886+292del | XP_016873688.1:n.2886+279_2886+292del | |
| XM_017018201.2:c.2889+279_2889+292del | XP_016873690.1:n.2889+279_2889+292del | |
| XM_017018202.1:c.1386+279_1386+292del | XP_016873691.1:n.1386+279_1386+292del | |
| XM_017018204.1:c.777+279_777+292del | XP_016873693.1:n.777+279_777+292del | |
| XM_024448668.1:c.1188+279_1188+292del | XP_024304436.1:n.1188+279_1188+292del | |
| XR_001747945.2:n.2961+279_2961+292del | ||
| XR_001747946.2:n.2892+279_2892+292del | ||
| XR_002957189.1:n.2961+279_2961+292del | ||
| NM_000352.6:c.2820+279_2820+292del MANE Select | NP_000343.2:n.2820+279_2820+292del | |
| NM_001287174.2:c.2823+279_2823+292del | NP_001274103.1:n.2823+279_2823+292del | |
| NM_001351295.2:c.2886+279_2886+292del | NP_001338224.1:n.2886+279_2886+292del | |
| NM_001351296.2:c.2820+279_2820+292del | NP_001338225.1:n.2820+279_2820+292del | |
| NM_001351297.2:c.2817+279_2817+292del | NP_001338226.1:n.2817+279_2817+292del | |
| NR_147094.2:n.2889+279_2889+292del | ||
| NM_001287174.3:c.2823+279_2823+292del | NP_001274103.1:n.2823+279_2823+292del |