WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32984804_32984805delinsAC , CM000671.2:g.32984804_32984805delinsAC | GRCh38 |
| NC_000009.11:g.32984802_32984803delinsAC , CM000671.1:g.32984802_32984803delinsAC | GRCh37 |
| NC_000009.10:g.32974802_32974803delinsAC | NCBI36 |
| NG_012821.1:g.21824_21825delinsGT | |
| NG_012821.2:g.45327_45328delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309615.8:c.434_435delinsGT | ENSP00000311547.4:p.Arg145= | |
| ENST00000379817.7:c.596_597delinsGT MANE Select | ENSP00000369145.2:p.Arg199= | |
| ENST00000379819.6:c.596_597delinsGT | ENSP00000369147.2:p.Arg199= | |
| ENST00000379825.7:c.596_597delinsGT | ENSP00000369153.3:p.Arg199= | |
| ENST00000397172.8:c.380_381delinsGT | ENSP00000380357.4:p.Arg127= | |
| ENST00000436040.7:c.434_435delinsGT | ENSP00000400806.4:p.Arg145= | |
| ENST00000460940.6:c.*388+1166_*388+1167delinsGT | ENSP00000418311.1:n.*388+1166_*388+1167de... | |
| ENST00000463596.6:c.596_597delinsGT | ENSP00000419846.1:p.Arg199= | |
| ENST00000464632.6:c.*326_*327delinsGT | ENSP00000418069.2:n.*326_*327delinsGT | |
| ENST00000465003.6:c.*326_*327delinsGT | ENSP00000419430.2:n.*326_*327delinsGT | |
| ENST00000467331.6:c.*441_*442delinsGT | ENSP00000418733.1:n.*441_*442delinsGT | |
| ENST00000468275.6:c.596_597delinsGT | ENSP00000420263.2:p.Arg199= | |
| ENST00000472896.6:c.*390_*391delinsGT | ENSP00000417804.2:n.*390_*391delinsGT | |
| ENST00000474658.7:c.*39_*40delinsGT | ENSP00000417750.3:n.*39_*40delinsGT | |
| ENST00000476858.6:c.434_435delinsGT | ENSP00000419042.2:p.Arg145= | |
| ENST00000477119.2:c.479_480delinsGT | ENSP00000417649.2:p.Arg160= | |
| ENST00000478279.6:c.*223_*224delinsGT | ENSP00000419597.2:n.*223_*224delinsGT | |
| ENST00000479656.6:c.*441_*442delinsGT | ENSP00000420071.1:n.*441_*442delinsGT | |
| ENST00000480031.6:c.*390_*391delinsGT | ENSP00000417684.1:n.*390_*391delinsGT | |
| ENST00000482687.6:c.*388+1166_*388+1167delinsGT | ENSP00000419289.2:n.*388+1166_*388+1167de... | |
| ENST00000483148.6:c.*223_*224delinsGT | ENSP00000419723.1:n.*223_*224delinsGT | |
| ENST00000485479.6:c.*317_*318delinsGT | ENSP00000418144.1:n.*317_*318delinsGT | |
| ENST00000495360.6:c.*339_*340delinsGT | ENSP00000419623.2:n.*339_*340delinsGT | |
| ENST00000671774.1:n.194_195delinsGT | ||
| ENST00000671912.1:c.279+1166_279+1167delinsGT | ENSP00000500871.1:n.279+1166_279+1167deli... | |
| ENST00000672152.1:n.740+1166_740+1167delinsGT | ||
| ENST00000672244.1:c.381+1166_381+1167delinsGT | ENSP00000499875.1:n.381+1166_381+1167deli... | |
| ENST00000672281.1:n.793_794delinsGT | ||
| ENST00000672286.1:n.857_858delinsGT | ||
| ENST00000672438.1:c.332_333delinsGT | ENSP00000499997.1:p.Arg111= | |
| ENST00000672476.1:n.788_789delinsGT | ||
| ENST00000672493.1:n.1135_1136delinsGT | ||
| ENST00000672519.1:c.*388+1166_*388+1167delinsGT | ENSP00000500320.1:n.*388+1166_*388+1167de... | |
| ENST00000672535.1:c.*326_*327delinsGT | ENSP00000499872.1:n.*326_*327delinsGT | |
| ENST00000672615.1:n.673_674delinsGT | ||
| ENST00000672846.1:c.*326_*327delinsGT | ENSP00000500396.1:n.*326_*327delinsGT | |
| ENST00000673114.1:n.460_461delinsGT | ||
| ENST00000673171.1:n.620+1166_620+1167delinsGT | ||
| ENST00000673211.1:n.678_679delinsGT | ||
| ENST00000673248.1:c.332_333delinsGT | ENSP00000500601.1:p.Arg111= | |
| ENST00000673333.1:n.874_875delinsGT | ||
| ENST00000673360.1:c.*39_*40delinsGT | ENSP00000500360.1:n.*39_*40delinsGT | |
| ENST00000673416.1:c.332_333delinsGT | ENSP00000500738.1:p.Arg111= | |
| ENST00000673485.1:n.793_794delinsGT | ||
| ENST00000673487.1:c.*326_*327delinsGT | ENSP00000500943.1:n.*326_*327delinsGT | |
| ENST00000673598.1:c.74_75delinsGT | ENSP00000499991.1:p.Arg25= | |
| ENST00000309615.7:c.434_435delinsGT | ENSP00000311547.4:p.Arg145= | |
| ENST00000379812.9:c.422_423delinsGT | ENSP00000369140.5:p.Arg141= | |
| ENST00000379813.7:c.578_579delinsGT | ENSP00000369141.4:p.Arg193= | |
| ENST00000379817.6:c.596_597delinsGT | ENSP00000369145.2:p.Arg199= | |
| ENST00000379819.5:c.638_639delinsGT | ENSP00000369147.1:p.Arg213= | |
| ENST00000379825.6:c.638_639delinsGT | ENSP00000369153.2:p.Arg213= | |
| ENST00000397172.7:c.422_423delinsGT | ENSP00000380357.3:p.Arg141= | |
| ENST00000436040.6:c.596_597delinsGT | ENSP00000400806.3:p.Arg199= | |
| ENST00000460940.5:c.*388+1166_*388+1167delinsGT | ENSP00000418311.1:n.*388+1166_*388+1167de... | |
| ENST00000463596.5:c.596_597delinsGT | ENSP00000419846.1:p.Arg199= | |
| ENST00000464632.5:c.*326_*327delinsGT | ENSP00000418069.1:n.*326_*327delinsGT | |
| ENST00000465003.5:c.*223_*224delinsGT | ENSP00000419430.1:n.*223_*224delinsGT | |
| ENST00000467331.5:c.*441_*442delinsGT | ENSP00000418733.1:n.*441_*442delinsGT | |
| ENST00000468275.5:c.596_597delinsGT | ENSP00000420263.1:p.Arg199= | |
| ENST00000472896.5:c.*273+1166_*273+1167delinsGT | ENSP00000417804.1:n.*273+1166_*273+1167de... | |
| ENST00000473221.5:c.476_477delinsGT | ENSP00000419020.1:p.Arg159= | |
| ENST00000474658.6:c.263_264delinsGT | ||
| ENST00000476858.5:c.476_477delinsGT | ENSP00000419042.1:p.Arg159= | |
| ENST00000477119.1:c.434_435delinsGT | ENSP00000417649.1:p.Arg145= | |
| ENST00000478279.5:c.*223_*224delinsGT | ENSP00000419597.1:n.*223_*224delinsGT | |
| ENST00000479656.5:c.*441_*442delinsGT | ENSP00000420071.1:n.*441_*442delinsGT | |
| ENST00000480031.5:c.*390_*391delinsGT | ENSP00000417684.1:n.*390_*391delinsGT | |
| ENST00000482687.5:c.543+1166_543+1167delinsGT | ENSP00000419289.1:n.543+1166_543+1167deli... | |
| ENST00000483148.5:c.*170+1166_*170+1167delinsGT | ENSP00000419723.1:n.*170+1166_*170+1167de... | |
| ENST00000485479.5:c.*326_*327delinsGT | ENSP00000418144.1:n.*326_*327delinsGT | |
| ENST00000486724.5:n.332_333delinsGT | ||
| ENST00000494649.5:c.*441_*442delinsGT | ENSP00000417634.1:n.*441_*442delinsGT | |
| ENST00000495360.5:c.*326_*327delinsGT | ENSP00000419623.1:n.*326_*327delinsGT | |
| NM_001195248.1:c.638_639delinsGT | NP_001182177.1:p.Arg213= | |
| NM_001195249.1:c.596_597delinsGT | NP_001182178.1:p.Arg199= | |
| NM_001195250.1:c.476_477delinsGT | NP_001182179.1:p.Arg159= | |
| NM_001195251.1:c.596_597delinsGT | NP_001182180.1:p.Arg199= | |
| NM_001195252.1:c.422_423delinsGT | NP_001182181.1:p.Arg141= | |
| NM_001195254.1:c.434_435delinsGT | NP_001182183.1:p.Arg145= | |
| NM_175069.2:c.638_639delinsGT | NP_778239.1:p.Arg213= | |
| NM_175073.2:c.596_597delinsGT | NP_778243.1:p.Arg199= | |
| NR_036576.1:n.670_671delinsGT | ||
| NR_036577.1:n.560_561delinsGT | ||
| NR_036578.1:n.692_693delinsGT | ||
| NR_036579.1:n.839_840delinsGT | ||
| XM_006716791.2:c.596_597delinsGT | XP_006716854.1:p.Arg199= | |
| XM_006716792.2:c.332_333delinsGT | XP_006716855.1:p.Arg111= | |
| XM_011517936.1:c.332_333delinsGT | XP_011516238.1:p.Arg111= | |
| XM_011517937.1:c.332_333delinsGT | XP_011516239.1:p.Arg111= | |
| XM_011517938.1:c.332_333delinsGT | XP_011516240.1:p.Arg111= | |
| XM_011517939.1:c.332_333delinsGT | XP_011516241.1:p.Arg111= | |
| XR_428423.2:n.622+1166_622+1167delinsGT | ||
| XR_929276.1:n.675_676delinsGT | ||
| XR_929277.1:n.675_676delinsGT | ||
| XR_929279.1:n.622+1166_622+1167delinsGT | ||
| XM_006716791.4:c.596_597delinsGT | XP_006716854.1:p.Arg199= | |
| XM_006716792.3:c.332_333delinsGT | XP_006716855.1:p.Arg111= | |
| XM_011517938.2:c.332_333delinsGT | XP_011516240.1:p.Arg111= | |
| XM_011517939.3:c.332_333delinsGT | XP_011516241.1:p.Arg111= | |
| XM_017014831.1:c.638_639delinsGT | XP_016870320.1:p.Arg213= | |
| XM_017014832.1:c.638_639delinsGT | XP_016870321.1:p.Arg213= | |
| XM_017014833.2:c.638_639delinsGT | XP_016870322.1:p.Arg213= | |
| XM_017014836.2:c.638_639delinsGT | XP_016870325.1:p.Arg213= | |
| XM_017014837.2:c.434_435delinsGT | XP_016870326.1:p.Arg145= | |
| XM_017014838.1:c.332_333delinsGT | XP_016870327.1:p.Arg111= | |
| XM_024447575.1:c.596_597delinsGT | XP_024303343.1:p.Arg199= | |
| XM_024447576.1:c.596_597delinsGT | XP_024303344.1:p.Arg199= | |
| XM_024447577.1:c.596_597delinsGT | XP_024303345.1:p.Arg199= | |
| XM_024447578.1:c.638_639delinsGT | XP_024303346.1:p.Arg213= | |
| XM_024447579.1:c.596_597delinsGT | XP_024303347.1:p.Arg199= | |
| XM_024447580.1:c.434_435delinsGT | XP_024303348.1:p.Arg145= | |
| XM_024447581.1:c.332_333delinsGT | XP_024303349.1:p.Arg111= | |
| XM_024447582.1:c.332_333delinsGT | XP_024303350.1:p.Arg111= | |
| XR_001746325.2:n.675_676delinsGT | ||
| XR_001746326.2:n.683_684delinsGT | ||
| XR_428423.3:n.622+1166_622+1167delinsGT | ||
| XR_929276.3:n.675_676delinsGT | ||
| XR_929277.3:n.675_676delinsGT | ||
| NM_001195248.2:c.596_597delinsGT MANE Select | NP_001182177.2:p.Arg199= | |
| NM_001195250.2:c.434_435delinsGT | NP_001182179.2:p.Arg145= | |
| NM_001195252.2:c.380_381delinsGT | NP_001182181.2:p.Arg127= | |
| NM_001368995.1:c.596_597delinsGT | NP_001355924.1:p.Arg199= | |
| NM_001368996.1:c.596_597delinsGT | NP_001355925.1:p.Arg199= | |
| NM_001368997.1:c.596_597delinsGT | NP_001355926.1:p.Arg199= | |
| NM_001368998.1:c.596_597delinsGT | NP_001355927.1:p.Arg199= | |
| NM_001368999.1:c.596_597delinsGT | NP_001355928.1:p.Arg199= | |
| NM_001369000.1:c.434_435delinsGT | NP_001355929.1:p.Arg145= | |
| NM_001369001.1:c.434_435delinsGT | NP_001355930.1:p.Arg145= | |
| NM_001369002.1:c.332_333delinsGT | NP_001355931.1:p.Arg111= | |
| NM_001369003.1:c.332_333delinsGT | NP_001355932.1:p.Arg111= | |
| NM_001369004.1:c.332_333delinsGT | NP_001355933.1:p.Arg111= | |
| NM_001369005.1:c.332_333delinsGT | NP_001355934.1:p.Arg111= | |
| NM_001369006.1:c.332_333delinsGT | NP_001355935.1:p.Arg111= | |
| NM_001370669.1:c.332_333delinsGT | NP_001357598.1:p.Arg111= | |
| NM_001370670.1:c.332_333delinsGT | NP_001357599.1:p.Arg111= | |
| NM_001370673.1:c.332_333delinsGT | NP_001357602.1:p.Arg111= | |
| NM_175069.3:c.596_597delinsGT | NP_778239.2:p.Arg199= | |
| NR_160920.1:n.609+1166_609+1167delinsGT | ||
| NR_160921.1:n.566_567delinsGT | ||
| NR_160922.1:n.797_798delinsGT | ||
| NR_160923.1:n.601_602delinsGT | ||
| NR_160924.1:n.606_607delinsGT | ||
| NR_160925.1:n.802_803delinsGT | ||
| NR_160926.1:n.592_593delinsGT | ||
| NR_160927.1:n.859+1166_859+1167delinsGT | ||
| NR_160928.1:n.749+1166_749+1167delinsGT | ||
| NR_160929.1:n.663+1166_663+1167delinsGT | ||
| NR_160930.1:n.542_543delinsGT | ||
| NR_160931.1:n.781_782delinsGT | ||
| NM_001195249.2:c.596_597delinsGT | NP_001182178.1:p.Arg199= | |
| NM_001195251.2:c.596_597delinsGT | NP_001182180.1:p.Arg199= | |
| NM_001195254.2:c.434_435delinsGT | NP_001182183.1:p.Arg145= | |
| NM_175073.3:c.596_597delinsGT | NP_778243.1:p.Arg199= | |
| NR_036577.2:n.547_548delinsGT |