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.72353140_72353142delinsCC , CM000677.2:g.72353140_72353142delinsCC | GRCh38 |
| NC_000015.9:g.72645481_72645483delinsCC , CM000677.1:g.72645481_72645483delinsCC | GRCh37 |
| NC_000015.8:g.70432535_70432537delinsCC | NCBI36 |
| NG_009017.1:g.28038_28040delinsGG | |
| NG_009017.2:g.28038_28040delinsGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.2842_2844delinsGG | ||
| ENST00000567027.6:c.496_498delinsGG | ENSP00000457521.2:p.Arg166GlyfsTer? | |
| ENST00000568260.2:c.516_518delinsGG | ENSP00000458128.2:n.516_518delinsGG | |
| ENST00000682061.1:c.*158_*160delinsGG | ENSP00000508316.1:n.*158_*160delinsGG | |
| ENST00000682177.1:c.496_498delinsGG | ENSP00000507409.1:p.Arg166GlyfsTer? | |
| ENST00000682461.1:c.677-1908_677-1906delinsGG | ENSP00000507308.1:n.677-1908_677-1906deli... | |
| ENST00000682653.1:n.527_529delinsGG | ||
| ENST00000682657.1:c.254-1908_254-1906delinsGG | ENSP00000507753.1:n.254-1908_254-1906deli... | |
| ENST00000682721.1:c.*299_*301delinsGG | ENSP00000507535.1:n.*299_*301delinsGG | |
| ENST00000682843.1:c.*394_*396delinsGG | ENSP00000508173.1:n.*394_*396delinsGG | |
| ENST00000683003.1:c.413-1908_413-1906delinsGG | ENSP00000507576.1:n.413-1908_413-1906deli... | |
| ENST00000683133.1:c.680_682delinsGG | ENSP00000508108.1:n.680_682delinsGG | |
| ENST00000683228.1:n.527_529delinsGG | ||
| ENST00000683243.1:c.413-1908_413-1906delinsGG | ENSP00000507042.1:n.413-1908_413-1906deli... | |
| ENST00000683463.1:c.496_498delinsGG | ENSP00000507986.1:p.Arg166GlyfsTer? | |
| ENST00000683548.1:n.527_529delinsGG | ||
| ENST00000683579.1:c.*394_*396delinsGG | ENSP00000506867.1:n.*394_*396delinsGG | |
| ENST00000683587.1:n.527_529delinsGG | ||
| ENST00000683681.1:c.496_498delinsGG | ENSP00000508110.1:p.Arg166GlyfsTer? | |
| ENST00000683735.1:c.*394_*396delinsGG | ENSP00000508336.1:n.*394_*396delinsGG | |
| ENST00000683853.1:c.496_498delinsGG | ENSP00000506834.1:p.Arg166GlyfsTer? | |
| ENST00000683860.1:c.496_498delinsGG | ENSP00000507179.1:p.Arg166GlyfsTer? | |
| ENST00000683884.1:c.496_498delinsGG | ENSP00000507004.1:p.Arg166GlyfsTer? | |
| ENST00000684041.1:c.496_498delinsGG | ENSP00000508382.1:p.Arg166GlyfsTer? | |
| ENST00000684125.1:c.496_498delinsGG | ENSP00000507320.1:p.Arg166GlyfsTer? | |
| ENST00000684203.1:n.2334_2336delinsGG | ||
| ENST00000684231.1:c.413-1908_413-1906delinsGG | ENSP00000507748.1:n.413-1908_413-1906deli... | |
| ENST00000684263.1:c.496_498delinsGG | ENSP00000508369.1:p.Arg166GlyfsTer? | |
| ENST00000684305.1:c.944_946delinsGG | ENSP00000506819.1:n.944_946delinsGG | |
| ENST00000684415.1:c.496_498delinsGG | ENSP00000507227.1:p.Arg166GlyfsTer? | |
| ENST00000684520.1:c.496_498delinsGG | ENSP00000506826.1:p.Arg166GlyfsTer? | |
| ENST00000684602.1:c.*237-1908_*237-1906delinsGG | ENSP00000507996.1:n.*237-1908_*237-1906de... | |
| ENST00000684667.1:c.827_829delinsGG | ENSP00000507003.1:n.827_829delinsGG | |
| ENST00000268097.10:c.496_498delinsGG MANE Select | ENSP00000268097.6:p.Arg166GlyfsTer? | |
| ENST00000268097.9:c.496_498delinsGG | ENSP00000268097.5:p.Arg166GlyfsTer? | |
| ENST00000379915.4:c.412+2417_412+2419delinsGG | ENSP00000478716.1:n.412+2417_412+2419deli... | |
| ENST00000563762.5:c.504-1908_504-1906delinsGG | ENSP00000456346.1:n.504-1908_504-1906deli... | |
| ENST00000566304.5:c.529_531delinsGG | ENSP00000455114.1:p.Arg177GlyfsTer? | |
| ENST00000566672.5:c.413-1908_413-1906delinsGG | ENSP00000457037.1:n.413-1908_413-1906deli... | |
| ENST00000567027.5:c.368_370delinsGG | ||
| ENST00000567159.5:c.496_498delinsGG | ENSP00000456489.1:p.Arg166GlyfsTer? | |
| ENST00000567411.5:c.*17_*19delinsGG | ENSP00000455545.1:n.*17_*19delinsGG | |
| ENST00000568260.1:c.497_499delinsGG | ||
| ENST00000568777.5:n.5900_5902delinsGG | ||
| ENST00000569410.5:c.496_498delinsGG | ENSP00000457125.1:p.Arg166GlyfsTer? | |
| ENST00000569509.5:n.418-1908_418-1906delinsGG | ||
| NM_000520.4:c.496_498delinsGG | NP_000511.2:p.Arg166GlyfsTer? | |
| NM_000520.5:c.496_498delinsGG | NP_000511.2:p.Arg166GlyfsTer? | |
| NM_001318825.1:c.529_531delinsGG | NP_001305754.1:p.Arg177GlyfsTer? | |
| NR_134869.1:n.997_999delinsGG | ||
| NM_000520.6:c.496_498delinsGG MANE Select | NP_000511.2:p.Arg166GlyfsTer? | |
| NM_001318825.2:c.529_531delinsGG | NP_001305754.1:p.Arg177GlyfsTer? | |
| NR_134869.2:n.538_540delinsGG | ||
| NR_134869.3:n.538_540delinsGG |