UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72353042_72353045delinsTGAA , CM000677.2:g.72353042_72353045delinsTGAA | GRCh38 |
| NC_000015.9:g.72645383_72645386delinsTGAA , CM000677.1:g.72645383_72645386delinsTGAA | GRCh37 |
| NC_000015.8:g.70432437_70432440delinsTGAA | NCBI36 |
| NG_009017.1:g.28135_28138delinsTTCA | |
| NG_009017.2:g.28135_28138delinsTTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.2916+23_2916+26delinsTTCA | ||
| ENST00000567027.6:c.570+23_570+26delinsTTCA | ENSP00000457521.2:n.570+23_570+26delinsTT... | |
| ENST00000568260.2:c.590+23_590+26delinsTTCA | ENSP00000458128.2:n.590+23_590+26delinsTT... | |
| ENST00000682061.1:c.*232+23_*232+26delinsTTCA | ENSP00000508316.1:n.*232+23_*232+26delins... | |
| ENST00000682177.1:c.570+23_570+26delinsTTCA | ENSP00000507409.1:n.570+23_570+26delinsTT... | |
| ENST00000682461.1:c.677-1811_677-1808delinsTTCA | ENSP00000507308.1:n.677-1811_677-1808deli... | |
| ENST00000682653.1:n.601+23_601+26delinsTTCA | ||
| ENST00000682657.1:c.254-1811_254-1808delinsTTCA | ENSP00000507753.1:n.254-1811_254-1808deli... | |
| ENST00000682721.1:c.*373+23_*373+26delinsTTCA | ENSP00000507535.1:n.*373+23_*373+26delins... | |
| ENST00000682843.1:c.*468+23_*468+26delinsTTCA | ENSP00000508173.1:n.*468+23_*468+26delins... | |
| ENST00000683003.1:c.413-1811_413-1808delinsTTCA | ENSP00000507576.1:n.413-1811_413-1808deli... | |
| ENST00000683133.1:c.754+23_754+26delinsTTCA | ENSP00000508108.1:n.754+23_754+26delinsTT... | |
| ENST00000683228.1:n.601+23_601+26delinsTTCA | ||
| ENST00000683243.1:c.413-1811_413-1808delinsTTCA | ENSP00000507042.1:n.413-1811_413-1808deli... | |
| ENST00000683463.1:c.570+23_570+26delinsTTCA | ENSP00000507986.1:n.570+23_570+26delinsTT... | |
| ENST00000683548.1:n.601+23_601+26delinsTTCA | ||
| ENST00000683579.1:c.*468+23_*468+26delinsTTCA | ENSP00000506867.1:n.*468+23_*468+26delins... | |
| ENST00000683587.1:n.601+23_601+26delinsTTCA | ||
| ENST00000683681.1:c.570+23_570+26delinsTTCA | ENSP00000508110.1:n.570+23_570+26delinsTT... | |
| ENST00000683735.1:c.*468+23_*468+26delinsTTCA | ENSP00000508336.1:n.*468+23_*468+26delins... | |
| ENST00000683853.1:c.570+23_570+26delinsTTCA | ENSP00000506834.1:n.570+23_570+26delinsTT... | |
| ENST00000683860.1:c.570+23_570+26delinsTTCA | ENSP00000507179.1:n.570+23_570+26delinsTT... | |
| ENST00000683884.1:c.570+23_570+26delinsTTCA | ENSP00000507004.1:n.570+23_570+26delinsTT... | |
| ENST00000684041.1:c.570+23_570+26delinsTTCA | ENSP00000508382.1:n.570+23_570+26delinsTT... | |
| ENST00000684125.1:c.570+23_570+26delinsTTCA | ENSP00000507320.1:n.570+23_570+26delinsTT... | |
| ENST00000684203.1:n.2408+23_2408+26delinsTTCA | ||
| ENST00000684231.1:c.413-1811_413-1808delinsTTCA | ENSP00000507748.1:n.413-1811_413-1808deli... | |
| ENST00000684263.1:c.570+23_570+26delinsTTCA | ENSP00000508369.1:n.570+23_570+26delinsTT... | |
| ENST00000684305.1:c.1018+23_1018+26delinsTTCA | ENSP00000506819.1:n.1018+23_1018+26delins... | |
| ENST00000684415.1:c.570+23_570+26delinsTTCA | ENSP00000507227.1:n.570+23_570+26delinsTT... | |
| ENST00000684520.1:c.570+23_570+26delinsTTCA | ENSP00000506826.1:n.570+23_570+26delinsTT... | |
| ENST00000684602.1:c.*237-1811_*237-1808delinsTTCA | ENSP00000507996.1:n.*237-1811_*237-1808de... | |
| ENST00000684667.1:c.901+23_901+26delinsTTCA | ENSP00000507003.1:n.901+23_901+26delinsTT... | |
| ENST00000268097.10:c.570+23_570+26delinsTTCA MANE Select | ENSP00000268097.6:n.570+23_570+26delinsTT... | |
| ENST00000268097.9:c.570+23_570+26delinsTTCA | ENSP00000268097.5:n.570+23_570+26delinsTT... | |
| ENST00000379915.4:c.412+2514_412+2517delinsTTCA | ENSP00000478716.1:n.412+2514_412+2517deli... | |
| ENST00000563762.5:c.504-1811_504-1808delinsTTCA | ENSP00000456346.1:n.504-1811_504-1808deli... | |
| ENST00000566304.5:c.603+23_603+26delinsTTCA | ENSP00000455114.1:n.603+23_603+26delinsTT... | |
| ENST00000566672.5:c.413-1811_413-1808delinsTTCA | ENSP00000457037.1:n.413-1811_413-1808deli... | |
| ENST00000567027.5:c.442+23_442+26delinsTTCA | ||
| ENST00000567159.5:c.570+23_570+26delinsTTCA | ENSP00000456489.1:n.570+23_570+26delinsTT... | |
| ENST00000567411.5:c.*91+23_*91+26delinsTTCA | ENSP00000455545.1:n.*91+23_*91+26delinsTT... | |
| ENST00000568260.1:c.571+23_571+26delinsTTCA | ||
| ENST00000568777.5:n.5974+23_5974+26delinsTTCA | ||
| ENST00000569410.5:c.570+23_570+26delinsTTCA | ENSP00000457125.1:n.570+23_570+26delinsTT... | |
| ENST00000569509.5:n.418-1811_418-1808delinsTTCA | ||
| NM_000520.4:c.570+23_570+26delinsTTCA | NP_000511.2:n.570+23_570+26delinsTTCA | |
| NM_000520.5:c.570+23_570+26delinsTTCA | NP_000511.2:n.570+23_570+26delinsTTCA | |
| NM_001318825.1:c.603+23_603+26delinsTTCA | NP_001305754.1:n.603+23_603+26delinsTTCA | |
| NR_134869.1:n.1071+23_1071+26delinsTTCA | ||
| NM_000520.6:c.570+23_570+26delinsTTCA MANE Select | NP_000511.2:n.570+23_570+26delinsTTCA | |
| NM_001318825.2:c.603+23_603+26delinsTTCA | NP_001305754.1:n.603+23_603+26delinsTTCA | |
| NR_134869.2:n.612+23_612+26delinsTTCA | ||
| NR_134869.3:n.612+23_612+26delinsTTCA |