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_000016.10:g.56496014_56504285del , CM000678.2:g.56496014_56504285del | GRCh38 |
| NC_000016.9:g.56529926_56538197del , CM000678.1:g.56529926_56538197del | GRCh37 |
| NC_000016.8:g.55087427_55095698del | NCBI36 |
| NG_009312.1:g.21000_29271del | |
| NG_009312.2:g.20741_29012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561877.2:c.88-1476_1897+954del | ||
| ENST00000565781.6:n.819-1476_5441+954del | ||
| ENST00000565859.2:n.1060-1476_2984+954del | ||
| ENST00000566210.2:n.88-1476_2339+954del | ||
| ENST00000566410.2:n.1018-1476_5424+954del | ||
| ENST00000568104.6:c.805-1476_1772+954del | ||
| ENST00000682000.1:n.363-1476_1468+954del | ||
| ENST00000682001.1:n.799-1476_2939+954del | ||
| ENST00000682038.1:c.*69-1476_*1299+954del | ||
| ENST00000682047.1:c.805-1476_1910+954del | ||
| ENST00000682088.1:c.*229-1476_*4851+954del | ||
| ENST00000682096.1:n.1011-1476_4360+954del | ||
| ENST00000682113.1:n.778-1476_4127+954del | ||
| ENST00000682146.1:n.1018-1476_3067+954del | ||
| ENST00000682187.1:c.*229-1476_*1334+954del | ||
| ENST00000682188.1:c.805-1476_1955+954del | ||
| ENST00000682201.1:n.796-1476_1901+954del | ||
| ENST00000682205.1:c.805-1476_1910+954del | ||
| ENST00000682348.1:c.805-1476_*959+954del | ||
| ENST00000682360.1:c.208-1476_1313+954del | ||
| ENST00000682370.1:n.1011-1476_3276+954del | ||
| ENST00000682420.1:n.1011-1476_2457+954del | ||
| ENST00000682429.1:c.805-1476_*579+954del | ||
| ENST00000682449.1:c.805-1476_*661+954del | ||
| ENST00000682470.1:c.805-1476_1910+954del | ||
| ENST00000682473.1:n.770-1476_1875+954del | ||
| ENST00000682482.1:c.679-1476_1784+954del | ||
| ENST00000682492.1:n.849-1476_1998+954del | ||
| ENST00000682493.1:c.805-1476_*505+954del | ||
| ENST00000682543.1:c.*229-1476_*1334+954del | ||
| ENST00000682597.1:n.1011-1476_4097+954del | ||
| ENST00000682658.1:c.805-1476_*942+954del | ||
| ENST00000682705.1:n.1011-1476_2979+954del | ||
| ENST00000682723.1:c.208-1476_1313+954del | ||
| ENST00000682735.1:c.*229-1476_*3578+954del | ||
| ENST00000682737.1:c.208-1476_1313+954del | ||
| ENST00000682757.1:n.1011-1476_3603+954del | ||
| ENST00000682855.1:c.805-1476_1910+954del | ||
| ENST00000682875.1:c.805-1476_1910+954del | ||
| ENST00000682930.1:c.730-1476_1835+954del | ||
| ENST00000682948.1:n.1018-1476_2942+954del | ||
| ENST00000682960.1:n.1018-1476_4151+954del | ||
| ENST00000683008.1:n.1011-1476_5306+954del | ||
| ENST00000683020.1:c.805-1476_*451+954del | ||
| ENST00000683099.1:n.1011-1476_3939+954del | ||
| ENST00000683170.1:n.949-1476_3635+954del | ||
| ENST00000683212.1:c.805-1476_*451+954del | ||
| ENST00000683248.1:n.1011-1476_3868+954del | ||
| ENST00000683343.1:n.796-1476_2764+954del | ||
| ENST00000683347.1:n.796-1476_2117+954del | ||
| ENST00000683384.1:c.826-1476_1931+954del | ||
| ENST00000683396.1:n.1011-1476_4687+954del | ||
| ENST00000683410.1:n.1011-1476_2332+954del | ||
| ENST00000683443.1:n.439-1476_1544+954del | ||
| ENST00000683485.1:n.1018-1476_4478+954del | ||
| ENST00000683504.1:n.2676_7501+954del | ||
| ENST00000683533.1:c.*229-1476_*1334+954del | ||
| ENST00000683609.1:n.1018-1476_3979+954del | ||
| ENST00000683644.1:c.805-1476_*1084+954del | ||
| ENST00000683669.1:n.688-1476_1793+954del | ||
| ENST00000683690.1:c.*229-1476_*3362+954del | ||
| ENST00000683719.1:n.788-1476_1893+954del | ||
| ENST00000683757.1:n.794-1476_1899+954del | ||
| ENST00000683858.1:c.805-1476_1862+954del | ||
| ENST00000683875.1:c.577-1476_1682+954del | ||
| ENST00000683904.1:n.1018-1476_4215+954del | ||
| ENST00000683910.1:n.1018-1476_4605+954del | ||
| ENST00000683959.1:c.208-1476_*959+954del | ||
| ENST00000683976.1:c.*354-1476_*1459+954del | ||
| ENST00000683978.1:n.948-1476_2053+954del | ||
| ENST00000683992.1:c.*229-1476_*1550+954del | ||
| ENST00000684020.1:n.1011-1476_2332+954del | ||
| ENST00000684044.1:n.1018-1476_2898+954del | ||
| ENST00000684057.1:n.1007-1476_2828+954del | ||
| ENST00000684076.1:n.976-1476_3290+954del | ||
| ENST00000684128.1:n.1011-1476_3478+954del | ||
| ENST00000684194.1:n.1011-1476_3541+954del | ||
| ENST00000684205.1:n.1449-1476_3589+954del | ||
| ENST00000684246.1:c.*229-1476_*1550+954del | ||
| ENST00000684402.1:n.1011-1476_3151+954del | ||
| ENST00000684446.1:n.1018-1476_3394+954del | ||
| ENST00000684531.1:n.1038-1476_3352+954del | ||
| ENST00000684635.1:c.700-1476_1805+954del | ||
| ENST00000684640.1:c.688-368_1872+954del | ||
| ENST00000684673.1:c.805-1476_*505+954del | ||
| ENST00000684684.1:c.*229-1476_*1162+954del | ||
| ENST00000245157.11:c.805-1476_1910+954del | ||
| ENST00000245157.9:c.805-1476_1910+954del | ||
| ENST00000565781.5:n.819-1476_5441+954del | ||
| ENST00000568104.5:c.805-1476_1772+954del | ||
| NM_031885.3:c.805-1476_1910+954del | ||
| XM_005256080.1:c.805-1476_1910+954del | ||
| XR_933378.1:n.1038-1476_1971+954del | ||
| XM_005256080.2:c.805-1476_1910+954del | ||
| XR_001751958.1:n.1038-1476_2271+954del | ||
| XR_001751959.2:n.1038-1476_2268+954del | ||
| XR_001751960.1:n.1038-1476_1971+954del | ||
| XR_001751961.1:n.1038-1476_1971+954del | ||
| XR_933380.2:n.1038-1476_2099+954del | ||
| NM_031885.4:c.805-1476_1910+954del | ||
| NM_001377456.1:c.805-1476_1910+954del | ||
| NM_031885.5:c.805-1476_1910+954del | ||
| NR_165293.1:n.967-1476_2200+954del | ||
| NR_165294.1:n.967-1476_2197+954del | ||
| NR_165295.1:n.967-1476_2028+954del | ||
| NR_165296.1:n.967-1476_1900+954del | ||
| NR_165297.1:n.967-1476_1900+954del |