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_000002.12:g.166009747_166009770del , CM000664.2:g.166009747_166009770del | GRCh38 |
| NC_000002.11:g.166866257_166866280del , CM000664.1:g.166866257_166866280del | GRCh37 |
| NC_000002.10:g.166574503_166574526del | NCBI36 |
| NG_011906.1:g.68871_68894del , LRG_8:g.68871_68894del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689288.1:c.*1988_*2011del | ENSP00000509637.1:n.*1988_*2011del | |
| ENST00000303395.9:c.3952_3975del | ENSP00000303540.4:p.Leu1318_Arg1325del | |
| ENST00000635750.1:c.3919_3942del | ENSP00000490799.1:p.Leu1307_Arg1314del | |
| ENST00000635776.1:c.3919_3942del | ENSP00000490692.1:p.Leu1307_Arg1314del | |
| ENST00000636194.1:c.*1445_*1468del | ENSP00000490288.1:n.*1445_*1468del | |
| ENST00000637038.1:c.750_773del | ||
| ENST00000637968.1:n.4204_4227del | ||
| ENST00000637988.1:c.3919_3942del | ENSP00000490780.1:p.Leu1307_Arg1314del | |
| ENST00000640036.1:c.3919_3942del | ENSP00000491573.1:p.Leu1307_Arg1314del | |
| ENST00000641575.1:c.3916_3939del | ENSP00000492917.1:p.Leu1306_Arg1313del | |
| ENST00000641603.1:c.3952_3975del | ENSP00000492945.1:p.Leu1318_Arg1325del | |
| ENST00000641996.1:c.*3506_*3529del | ENSP00000493054.1:n.*3506_*3529del | |
| ENST00000671940.1:c.*1895_*1918del | ENSP00000500336.1:n.*1895_*1918del | |
| ENST00000673490.1:n.6425_6448del | ||
| ENST00000674923.1:c.3952_3975del MANE Select | ENSP00000501589.1:p.Leu1318_Arg1325del | |
| ENST00000303395.8:c.3952_3975del | ENSP00000303540.4:p.Leu1318_Arg1325del | |
| ENST00000375405.7:c.3919_3942del | ENSP00000364554.3:p.Leu1307_Arg1314del | |
| ENST00000409050.1:c.3868_3891del | ENSP00000386312.1:p.Leu1290_Arg1297del | |
| ENST00000423058.6:c.3952_3975del | ENSP00000407030.2:p.Leu1318_Arg1325del | |
| NM_001165963.1:c.3952_3975del | NP_001159435.1:p.Leu1318_Arg1325del | |
| NM_001165964.1:c.3868_3891del | NP_001159436.1:p.Leu1290_Arg1297del | |
| NM_001202435.1:c.3952_3975del | NP_001189364.1:p.Leu1318_Arg1325del | |
| NM_006920.4:c.3919_3942del , LRG_8t1:c.3919_3942del | NP_008851.3:p.Leu1307_Arg1314del | |
| NR_110598.1:n.176-5866_176-5843del | ||
| XM_011511598.1:c.3952_3975del | XP_011509900.1:p.Leu1318_Arg1325del | |
| XM_011511599.1:c.3952_3975del | XP_011509901.1:p.Leu1318_Arg1325del | |
| XM_011511600.1:c.3952_3975del | XP_011509902.1:p.Leu1318_Arg1325del | |
| XM_011511601.1:c.3952_3975del | XP_011509903.1:p.Leu1318_Arg1325del | |
| XM_011511602.1:c.3952_3975del | XP_011509904.1:p.Leu1318_Arg1325del | |
| XM_011511603.1:c.3949_3972del | XP_011509905.1:p.Leu1317_Arg1324del | |
| XM_011511604.1:c.3919_3942del | XP_011509906.1:p.Leu1307_Arg1314del | |
| XM_011511605.1:c.3916_3939del | XP_011509907.1:p.Leu1306_Arg1313del | |
| XM_011511606.1:c.3868_3891del | XP_011509908.1:p.Leu1290_Arg1297del | |
| XM_011511607.1:c.3952_3975del | XP_011509909.1:p.Leu1318_Arg1325del | |
| XR_922981.1:n.4136_4159del | ||
| NM_001165963.2:c.3952_3975del | NP_001159435.1:p.Leu1318_Arg1325del | |
| NM_001165964.2:c.3868_3891del | NP_001159436.1:p.Leu1290_Arg1297del | |
| NM_001202435.2:c.3952_3975del | NP_001189364.1:p.Leu1318_Arg1325del | |
| NM_001353948.1:c.3952_3975del | NP_001340877.1:p.Leu1318_Arg1325del | |
| NM_001353949.1:c.3919_3942del | NP_001340878.1:p.Leu1307_Arg1314del | |
| NM_001353950.1:c.3919_3942del | NP_001340879.1:p.Leu1307_Arg1314del | |
| NM_001353951.1:c.3919_3942del | NP_001340880.1:p.Leu1307_Arg1314del | |
| NM_001353952.1:c.3919_3942del | NP_001340881.1:p.Leu1307_Arg1314del | |
| NM_001353954.1:c.3916_3939del | NP_001340883.1:p.Leu1306_Arg1313del | |
| NM_001353955.1:c.3916_3939del | NP_001340884.1:p.Leu1306_Arg1313del | |
| NM_001353957.1:c.3868_3891del | NP_001340886.1:p.Leu1290_Arg1297del | |
| NM_001353958.1:c.3868_3891del | NP_001340887.1:p.Leu1290_Arg1297del | |
| NM_001353960.1:c.3865_3888del | NP_001340889.1:p.Leu1289_Arg1296del | |
| NM_001353961.1:c.1510_1533del | NP_001340890.1:p.Leu504_Arg511del | |
| NM_006920.5:c.3919_3942del | NP_008851.3:p.Leu1307_Arg1314del | |
| NR_148667.1:n.4324_4347del | ||
| XR_001738883.1:n.4338_4361del | ||
| XR_001738884.1:n.4310_4333del | ||
| NM_001165963.3:c.3952_3975del | NP_001159435.1:p.Leu1318_Arg1325del | |
| NM_001165964.3:c.3868_3891del | NP_001159436.1:p.Leu1290_Arg1297del | |
| NM_001202435.3:c.3952_3975del | NP_001189364.1:p.Leu1318_Arg1325del | |
| NM_001353948.2:c.3952_3975del | NP_001340877.1:p.Leu1318_Arg1325del | |
| NM_001353949.2:c.3919_3942del | NP_001340878.1:p.Leu1307_Arg1314del | |
| NM_001353950.2:c.3919_3942del | NP_001340879.1:p.Leu1307_Arg1314del | |
| NM_001353951.2:c.3919_3942del | NP_001340880.1:p.Leu1307_Arg1314del | |
| NM_001353952.2:c.3919_3942del | NP_001340881.1:p.Leu1307_Arg1314del | |
| NM_001353954.2:c.3916_3939del | NP_001340883.1:p.Leu1306_Arg1313del | |
| NM_001353955.2:c.3916_3939del | NP_001340884.1:p.Leu1306_Arg1313del | |
| NM_001353957.2:c.3868_3891del | NP_001340886.1:p.Leu1290_Arg1297del | |
| NM_001353958.2:c.3868_3891del | NP_001340887.1:p.Leu1290_Arg1297del | |
| NM_001353960.2:c.3865_3888del | NP_001340889.1:p.Leu1289_Arg1296del | |
| NM_001353961.2:c.1510_1533del | NP_001340890.1:p.Leu504_Arg511del | |
| NM_006920.6:c.3919_3942del | NP_008851.3:p.Leu1307_Arg1314del | |
| NR_148667.2:n.4305_4328del | ||
| NM_001165963.4:c.3952_3975del MANE Select | NP_001159435.1:p.Leu1318_Arg1325del |