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_000003.12:g.185811113_185811115delinsAAC , CM000665.2:g.185811113_185811115delinsAAC | GRCh38 |
| NC_000003.11:g.185528901_185528903delinsAAC , CM000665.1:g.185528901_185528903delinsAAC | GRCh37 |
| NC_000003.10:g.187011595_187011597delinsAAC | NCBI36 |
| NG_011602.1:g.18925_18927delinsGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382199.7:c.239+12038_239+12040delinsGTT MANE Select | ENSP00000371634.3:n.239+12038_239+12040de... | |
| ENST00000346192.7:c.239+12038_239+12040delinsGTT | ENSP00000320204.5:n.239+12038_239+12040de... | |
| ENST00000382199.6:c.239+12038_239+12040delinsGTT | ENSP00000371634.2:n.239+12038_239+12040de... | |
| ENST00000421047.3:c.50+9897_50+9899delinsGTT | ENSP00000413787.3:n.50+9897_50+9899delins... | |
| ENST00000457616.6:c.239+12038_239+12040delinsGTT | ENSP00000410242.2:n.239+12038_239+12040de... | |
| ENST00000461957.5:n.119+12038_119+12040delinsGTT | ||
| ENST00000466476.1:n.171+12038_171+12040delinsGTT | ||
| ENST00000493302.5:n.120+9897_120+9899delinsGTT | ||
| NM_001007225.1:c.239+12038_239+12040delinsGTT | NP_001007226.1:n.239+12038_239+12040delin... | |
| NM_001291869.1:c.239+12038_239+12040delinsGTT | NP_001278798.1:n.239+12038_239+12040delin... | |
| NM_001291872.1:c.50+9897_50+9899delinsGTT | NP_001278801.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291873.1:c.50+9897_50+9899delinsGTT | NP_001278802.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291874.1:c.50+9897_50+9899delinsGTT | NP_001278803.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291875.1:c.-106+9897_-106+9899delinsGTT | NP_001278804.1:n.-106+9897_-106+9899delin... | |
| NM_006548.4:c.239+12038_239+12040delinsGTT | NP_006539.3:n.239+12038_239+12040delinsGT... | |
| XM_011512338.1:c.239+12038_239+12040delinsGTT | XP_011510640.1:n.239+12038_239+12040delin... | |
| XM_011512339.1:c.239+12038_239+12040delinsGTT | XP_011510641.1:n.239+12038_239+12040delin... | |
| XM_011512341.1:c.239+12038_239+12040delinsGTT | XP_011510643.1:n.239+12038_239+12040delin... | |
| XR_427358.2:n.318+12038_318+12040delinsGTT | ||
| NM_001007225.2:c.239+12038_239+12040delinsGTT | NP_001007226.1:n.239+12038_239+12040delin... | |
| NM_001291869.2:c.239+12038_239+12040delinsGTT | NP_001278798.1:n.239+12038_239+12040delin... | |
| NM_001291872.2:c.50+9897_50+9899delinsGTT | NP_001278801.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291873.2:c.50+9897_50+9899delinsGTT | NP_001278802.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291874.2:c.50+9897_50+9899delinsGTT | NP_001278803.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291875.2:c.-106+9897_-106+9899delinsGTT | NP_001278804.1:n.-106+9897_-106+9899delin... | |
| NM_006548.5:c.239+12038_239+12040delinsGTT | NP_006539.3:n.239+12038_239+12040delinsGT... | |
| NR_138486.1:n.335+12038_335+12040delinsGTT | ||
| XM_017005557.2:c.178+13668_178+13670delinsGTT | XP_016861046.1:n.178+13668_178+13670delin... | |
| XM_017005558.2:c.239+12038_239+12040delinsGTT | XP_016861047.1:n.239+12038_239+12040delin... | |
| XM_017005559.2:c.239+12038_239+12040delinsGTT | XP_016861048.1:n.239+12038_239+12040delin... | |
| XM_017005560.2:c.35+12038_35+12040delinsGTT | XP_016861049.1:n.35+12038_35+12040delinsG... | |
| XM_017005561.1:c.239+12038_239+12040delinsGTT | XP_016861050.1:n.239+12038_239+12040delin... | |
| XM_017005562.1:c.239+12038_239+12040delinsGTT | XP_016861051.1:n.239+12038_239+12040delin... | |
| XM_017005563.1:c.239+12038_239+12040delinsGTT | XP_016861052.1:n.239+12038_239+12040delin... | |
| XM_017005564.1:c.239+12038_239+12040delinsGTT | XP_016861053.1:n.239+12038_239+12040delin... | |
| XM_024453316.1:c.-170+13668_-170+13670delinsGTT | XP_024309084.1:n.-170+13668_-170+13670del... | |
| XR_001739984.2:n.324+12038_324+12040delinsGTT | ||
| NM_001007225.3:c.239+12038_239+12040delinsGTT | NP_001007226.1:n.239+12038_239+12040delin... | |
| NM_001291869.3:c.239+12038_239+12040delinsGTT | NP_001278798.1:n.239+12038_239+12040delin... | |
| NM_001291872.3:c.50+9897_50+9899delinsGTT | NP_001278801.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291874.3:c.50+9897_50+9899delinsGTT | NP_001278803.1:n.50+9897_50+9899delinsGTT... | |
| NM_001291875.3:c.-106+9897_-106+9899delinsGTT | NP_001278804.1:n.-106+9897_-106+9899delin... | |
| NM_006548.6:c.239+12038_239+12040delinsGTT MANE Select | NP_006539.3:n.239+12038_239+12040delinsGT... | |
| NR_138486.2:n.321+12038_321+12040delinsGTT | ||
| NM_001291873.3:c.50+9897_50+9899delinsGTT | NP_001278802.1:n.50+9897_50+9899delinsGTT... |