Linked Data
dbSNP Id:
rs922867519
gnomAD v2:
11-17431830-TG-T
gnomAD v3:
11-17410283-TG-T
gnomAD v4:
11-17410283-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17410289del , CM000673.2:g.17410289del | GRCh38 |
| NC_000011.9:g.17431836del , CM000673.1:g.17431836del | GRCh37 |
| NC_000011.8:g.17388412del | NCBI36 |
| NG_008867.1:g.71619del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2363+232del | ||
| ENST00000529967.6:n.953+232del | ||
| ENST00000642611.2:n.2763+232del | ||
| ENST00000682051.1:n.2710+232del | ||
| ENST00000682110.1:n.2763+232del | ||
| ENST00000682140.1:c.2691+232del | ENSP00000507829.1:n.2691+232del | |
| ENST00000682185.1:n.3999+232del | ||
| ENST00000682204.1:c.*832+232del | ENSP00000507094.1:n.*832+232del | |
| ENST00000682215.1:n.2760+232del | ||
| ENST00000682288.1:c.*1125+232del | ENSP00000507506.1:n.*1125+232del | |
| ENST00000682442.1:n.2884+232del | ||
| ENST00000682528.1:n.2760+232del | ||
| ENST00000682673.1:n.2707+232del | ||
| ENST00000682805.1:n.2760+232del | ||
| ENST00000682965.1:c.2691+232del | ENSP00000508229.1:n.2691+232del | |
| ENST00000683093.1:n.2862+232del | ||
| ENST00000683136.1:c.2691+232del | ENSP00000507768.1:n.2691+232del | |
| ENST00000683153.1:n.2919+232del | ||
| ENST00000683365.1:n.2865+232del | ||
| ENST00000683377.1:n.2763+232del | ||
| ENST00000683456.1:c.2694+232del | ENSP00000508318.1:n.2694+232del | |
| ENST00000683522.1:n.2763+232del | ||
| ENST00000683562.1:c.*863+232del | ENSP00000508265.1:n.*863+232del | |
| ENST00000683693.1:n.2760+232del | ||
| ENST00000683725.1:c.2694+232del | ENSP00000507496.1:n.2694+232del | |
| ENST00000684010.1:n.2678+232del | ||
| ENST00000684157.1:n.2763+232del | ||
| ENST00000684253.1:n.2666+232del | ||
| ENST00000684288.1:c.*866+232del | ENSP00000507143.1:n.*866+232del | |
| ENST00000684313.1:n.2195+232del | ||
| ENST00000684332.1:n.2836+232del | ||
| ENST00000684371.1:n.2869+232del | ||
| ENST00000684404.1:n.2760+232del | ||
| ENST00000684442.1:n.2763+232del | ||
| ENST00000684555.1:c.*906+232del | ENSP00000507705.1:n.*906+232del | |
| ENST00000684571.1:c.2535+232del | ENSP00000506935.1:n.2535+232del | |
| ENST00000684593.1:c.*2399+232del | ENSP00000507005.1:n.*2399+232del | |
| ENST00000684711.1:c.*1090+232del | ENSP00000506841.1:n.*1090+232del | |
| ENST00000302539.9:c.2697+232del | ENSP00000303960.4:n.2697+232del | |
| ENST00000389817.8:c.2694+232del MANE Select | ENSP00000374467.4:n.2694+232del | |
| ENST00000642271.1:c.2691+232del | ENSP00000493749.1:n.2691+232del | |
| ENST00000642579.1:c.778+232del | ||
| ENST00000642611.1:n.2648+232del | ||
| ENST00000642902.1:c.2529+232del | ||
| ENST00000643260.1:c.2694+232del | ENSP00000494450.1:n.2694+232del | |
| ENST00000643562.1:c.*670+232del | ENSP00000496124.1:n.*670+232del | |
| ENST00000643925.1:c.738+232del | ||
| ENST00000644447.1:c.1050+232del | ENSP00000496282.1:n.1050+232del | |
| ENST00000644472.1:c.*1055+232del | ENSP00000495378.1:n.*1055+232del | |
| ENST00000644484.1:c.*903+232del | ENSP00000493558.1:n.*903+232del | |
| ENST00000644542.1:c.*2399+232del | ENSP00000495532.1:n.*2399+232del | |
| ENST00000644675.1:c.*866+232del | ENSP00000494567.1:n.*866+232del | |
| ENST00000644757.1:c.*999+232del | ENSP00000495085.1:n.*999+232del | |
| ENST00000644772.1:c.2760+232del | ENSP00000494321.1:n.2760+232del | |
| ENST00000645076.1:c.1946+232del | ||
| ENST00000645744.1:c.*1058+232del | ENSP00000494564.1:n.*1058+232del | |
| ENST00000645760.1:c.2969+232del | ||
| ENST00000645884.1:c.2694+232del | ENSP00000495516.1:n.2694+232del | |
| ENST00000646003.1:c.*750+232del | ENSP00000495259.1:n.*750+232del | |
| ENST00000646207.1:c.*1058+232del | ENSP00000495025.1:n.*1058+232del | |
| ENST00000646276.1:c.*967+232del | ENSP00000496070.1:n.*967+232del | |
| ENST00000646592.1:c.1920+232del | ||
| ENST00000646902.1:c.2691+232del | ENSP00000494101.1:n.2691+232del | |
| ENST00000646993.1:c.*1090+232del | ENSP00000493720.1:n.*1090+232del | |
| ENST00000647013.1:c.2700+232del | ENSP00000496741.1:n.2700+232del | |
| ENST00000647015.1:c.2445+232del | ENSP00000495389.1:n.2445+232del | |
| ENST00000647086.1:c.*2424+232del | ENSP00000493677.1:n.*2424+232del | |
| ENST00000647158.1:c.*835+232del | ENSP00000495744.1:n.*835+232del | |
| ENST00000302539.8:c.2697+232del | ENSP00000303960.4:n.2697+232del | |
| ENST00000389817.7:c.2694+232del | ENSP00000374467.3:n.2694+232del | |
| ENST00000526921.5:n.378+232del | ||
| ENST00000527905.5:c.2664+232del | ENSP00000431653.1:n.2664+232del | |
| ENST00000529967.5:n.363+232del | ||
| ENST00000530147.5:n.509del | ||
| NM_000352.4:c.2694+232del | NP_000343.2:n.2694+232del | |
| NM_001287174.1:c.2697+232del | NP_001274103.1:n.2697+232del | |
| XM_011520331.1:c.2694+232del | XP_011518633.1:n.2694+232del | |
| XM_011520332.1:c.2697+232del | XP_011518634.1:n.2697+232del | |
| XM_011520333.1:c.1194+232del | XP_011518635.1:n.1194+232del | |
| XM_011520334.1:c.2697+232del | XP_011518636.1:n.2697+232del | |
| XR_930890.1:n.2760+232del | ||
| XR_930891.1:n.2760+232del | ||
| XR_930892.1:n.2760+232del | ||
| XR_930893.1:n.2757+232del | ||
| NM_001351295.1:c.2760+232del | NP_001338224.1:n.2760+232del | |
| NM_001351296.1:c.2694+232del | NP_001338225.1:n.2694+232del | |
| NM_001351297.1:c.2691+232del | NP_001338226.1:n.2691+232del | |
| NR_147094.1:n.2763+232del | ||
| XM_017018197.2:c.2763+232del | XP_016873686.1:n.2763+232del | |
| XM_017018199.1:c.2760+232del | XP_016873688.1:n.2760+232del | |
| XM_017018201.2:c.2763+232del | XP_016873690.1:n.2763+232del | |
| XM_017018202.1:c.1260+232del | XP_016873691.1:n.1260+232del | |
| XM_017018204.1:c.651+232del | XP_016873693.1:n.651+232del | |
| XM_024448668.1:c.1062+232del | XP_024304436.1:n.1062+232del | |
| XR_001747945.2:n.2835+232del | ||
| XR_001747946.2:n.2766+232del | ||
| XR_002957189.1:n.2835+232del | ||
| NM_000352.6:c.2694+232del MANE Select | NP_000343.2:n.2694+232del | |
| NM_001287174.2:c.2697+232del | NP_001274103.1:n.2697+232del | |
| NM_001351295.2:c.2760+232del | NP_001338224.1:n.2760+232del | |
| NM_001351296.2:c.2694+232del | NP_001338225.1:n.2694+232del | |
| NM_001351297.2:c.2691+232del | NP_001338226.1:n.2691+232del | |
| NR_147094.2:n.2763+232del | ||
| NM_001287174.3:c.2697+232del | NP_001274103.1:n.2697+232del |