Linked Data
ClinVar Variation Id:
370210
dbSNP Id:
rs1057516317
gnomAD v3:
11-17402736-TC-T
gnomAD v4:
11-17402736-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17402738del , CM000673.2:g.17402738del | GRCh38 |
| NC_000011.9:g.17424285del , CM000673.1:g.17424285del | GRCh37 |
| NC_000011.8:g.17380861del | NCBI36 |
| NG_008867.1:g.79166del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3143del | ||
| ENST00000528374.2:c.153del | ||
| ENST00000529967.6:n.1913del | ||
| ENST00000532220.2:n.1306del | ||
| ENST00000642611.2:n.3643del | ||
| ENST00000644057.2:n.17del | ||
| ENST00000645004.2:n.1073del | ||
| ENST00000682051.1:n.3590del | ||
| ENST00000682110.1:n.3643del | ||
| ENST00000682140.1:c.3571del | ENSP00000507829.1:p.Asp1191MetfsTer16 | |
| ENST00000682185.1:n.4879del | ||
| ENST00000682204.1:c.*1712del | ENSP00000507094.1:n.*1712del | |
| ENST00000682215.1:n.3640del | ||
| ENST00000682288.1:c.*2005del | ENSP00000507506.1:n.*2005del | |
| ENST00000682442.1:n.3863del | ||
| ENST00000682528.1:n.3720del | ||
| ENST00000682673.1:n.3587del | ||
| ENST00000682805.1:n.3640del | ||
| ENST00000682965.1:c.3413del | ENSP00000508229.1:p.Gly1138AspfsTer? | |
| ENST00000683093.1:n.3742del | ||
| ENST00000683136.1:c.3571del | ENSP00000507768.1:p.Asp1191MetfsTer16 | |
| ENST00000683153.1:n.3799del | ||
| ENST00000683365.1:n.3745del | ||
| ENST00000683377.1:n.3643del | ||
| ENST00000683456.1:c.*711del | ENSP00000508318.1:n.*711del | |
| ENST00000683522.1:n.3643del | ||
| ENST00000683562.1:c.*1743del | ENSP00000508265.1:n.*1743del | |
| ENST00000683693.1:n.3720del | ||
| ENST00000683725.1:c.3574del | ENSP00000507496.1:p.Asp1192MetfsTer16 | |
| ENST00000684010.1:n.3638del | ||
| ENST00000684157.1:n.3643del | ||
| ENST00000684253.1:n.3546del | ||
| ENST00000684288.1:c.*1746del | ENSP00000507143.1:n.*1746del | |
| ENST00000684313.1:n.3075del | ||
| ENST00000684332.1:n.3716del | ||
| ENST00000684371.1:n.3749del | ||
| ENST00000684404.1:n.3686del | ||
| ENST00000684442.1:n.3643del | ||
| ENST00000684555.1:c.*1786del | ENSP00000507705.1:n.*1786del | |
| ENST00000684571.1:c.3415del | ENSP00000506935.1:p.Asp1139MetfsTer16 | |
| ENST00000684593.1:c.*3279del | ENSP00000507005.1:n.*3279del | |
| ENST00000684711.1:c.*1970del | ENSP00000506841.1:n.*1970del | |
| ENST00000302539.9:c.3577del | ENSP00000303960.4:p.Asp1193MetfsTer16 | |
| ENST00000389817.8:c.3574del MANE Select | ENSP00000374467.4:p.Asp1192MetfsTer16 | |
| ENST00000642271.1:c.3571del | ENSP00000493749.1:p.Asp1191MetfsTer16 | |
| ENST00000642579.1:c.1658del | ||
| ENST00000642611.1:n.3528del | ||
| ENST00000642902.1:c.3356del | ||
| ENST00000643260.1:c.3574del | ENSP00000494450.1:p.Asp1192MetfsTer16 | |
| ENST00000643562.1:c.*1550del | ENSP00000496124.1:n.*1550del | |
| ENST00000643925.1:c.1698del | ||
| ENST00000644447.1:c.1930del | ENSP00000496282.1:p.Asp644MetfsTer16 | |
| ENST00000644484.1:c.*1829del | ENSP00000493558.1:n.*1829del | |
| ENST00000644675.1:c.*1746del | ENSP00000494567.1:n.*1746del | |
| ENST00000644757.1:c.*1859del | ENSP00000495085.1:n.*1859del | |
| ENST00000644772.1:c.3640del | ENSP00000494321.1:p.Asp1214MetfsTer16 | |
| ENST00000645004.1:n.713del | ||
| ENST00000645076.1:c.2773del | ||
| ENST00000645417.1:c.740del | ||
| ENST00000645744.1:c.*1838del | ENSP00000494564.1:n.*1838del | |
| ENST00000645760.1:c.3849del | ||
| ENST00000645884.1:c.*711del | ENSP00000495516.1:n.*711del | |
| ENST00000646003.1:c.*1530del | ENSP00000495259.1:n.*1530del | |
| ENST00000646207.1:c.*2041del | ENSP00000495025.1:n.*2041del | |
| ENST00000646276.1:c.*1847del | ENSP00000496070.1:n.*1847del | |
| ENST00000646592.1:c.2880del | ||
| ENST00000646902.1:c.3571del | ENSP00000494101.1:p.Asp1191MetfsTer16 | |
| ENST00000646993.1:c.*1970del | ENSP00000493720.1:n.*1970del | |
| ENST00000647013.1:c.3580del | ENSP00000496741.1:n.3580del | |
| ENST00000647015.1:c.3325del | ENSP00000495389.1:p.Asp1109MetfsTer16 | |
| ENST00000647086.1:c.*3304del | ENSP00000493677.1:n.*3304del | |
| ENST00000647158.1:c.*1715del | ENSP00000495744.1:n.*1715del | |
| ENST00000302539.8:c.3577del | ENSP00000303960.4:p.Asp1193MetfsTer16 | |
| ENST00000389817.7:c.3574del | ENSP00000374467.3:p.Asp1192MetfsTer16 | |
| ENST00000524561.1:n.706del | ||
| ENST00000527905.5:c.*450del | ENSP00000431653.1:n.*450del | |
| ENST00000528374.1:c.44del | ||
| ENST00000531137.1:n.67del | ||
| NM_000352.4:c.3574del | NP_000343.2:p.Asp1192MetfsTer16 | |
| NM_001287174.1:c.3577del | NP_001274103.1:p.Asp1193MetfsTer16 | |
| XM_011520331.1:c.3574del | XP_011518633.1:p.Asp1192MetfsTer16 | |
| XM_011520332.1:c.3577del | XP_011518634.1:p.Asp1193MetfsTer16 | |
| XM_011520333.1:c.2074del | XP_011518635.1:p.Asp692MetfsTer16 | |
| XR_930890.1:n.3640del | ||
| XR_930892.1:n.3540del | ||
| XR_930893.1:n.3537del | ||
| NM_001351295.1:c.3640del | NP_001338224.1:p.Asp1214MetfsTer16 | |
| NM_001351296.1:c.3574del | NP_001338225.1:p.Asp1192MetfsTer16 | |
| NM_001351297.1:c.3571del | NP_001338226.1:p.Asp1191MetfsTer16 | |
| NR_147094.1:n.3723del | ||
| XM_017018197.2:c.3643del | XP_016873686.1:p.Asp1215MetfsTer16 | |
| XM_017018199.1:c.3640del | XP_016873688.1:p.Asp1214MetfsTer16 | |
| XM_017018201.2:c.3643del | XP_016873690.1:p.Asp1215MetfsTer16 | |
| XM_017018202.1:c.2140del | XP_016873691.1:p.Asp714MetfsTer16 | |
| XM_017018204.1:c.1531del | XP_016873693.1:p.Asp511MetfsTer16 | |
| XM_024448668.1:c.1942del | XP_024304436.1:p.Asp648MetfsTer16 | |
| XR_001747945.2:n.3715del | ||
| XR_001747946.2:n.3646del | ||
| XR_002957189.1:n.3795del | ||
| NM_000352.6:c.3574del MANE Select | NP_000343.2:p.Asp1192MetfsTer16 | |
| NM_001287174.2:c.3577del | NP_001274103.1:p.Asp1193MetfsTer16 | |
| NM_001351295.2:c.3640del | NP_001338224.1:p.Asp1214MetfsTer16 | |
| NM_001351296.2:c.3574del | NP_001338225.1:p.Asp1192MetfsTer16 | |
| NM_001351297.2:c.3571del | NP_001338226.1:p.Asp1191MetfsTer16 | |
| NR_147094.2:n.3723del | ||
| NM_001287174.3:c.3577del | NP_001274103.1:p.Asp1193MetfsTer16 |