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_000005.10:g.55944096_55944103delinsCAAAGCAA , CM000667.2:g.55944096_55944103delinsCAAAGCAA | GRCh38 |
| NC_000005.9:g.55239924_55239931delinsCAAAGCAA , CM000667.1:g.55239924_55239931delinsCAAAGCAA | GRCh37 |
| NC_000005.8:g.55275681_55275688delinsCAAAGCAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381294.8:c.1755-1352_1755-1345delinsTTGCTTTG | ENSP00000370694.3:n.1755-1352_1755-1345de... | |
| ENST00000506241.2:n.3279-1352_3279-1345delinsTTGCTTTG | ||
| ENST00000577363.2:c.*1343-1352_*1343-1345delinsTTGCTTTG | ENSP00000513861.1:n.*1343-1352_*1343-1345... | |
| ENST00000698638.1:c.1035-1352_1035-1345delinsTTGCTTTG | ENSP00000513851.1:n.1035-1352_1035-1345de... | |
| ENST00000698639.1:c.1791-1352_1791-1345delinsTTGCTTTG | ENSP00000513852.1:n.1791-1352_1791-1345de... | |
| ENST00000698640.1:c.1221-1352_1221-1345delinsTTGCTTTG | ENSP00000513853.1:n.1221-1352_1221-1345de... | |
| ENST00000698641.1:c.*1160-1352_*1160-1345delinsTTGCTTTG | ENSP00000513854.1:n.*1160-1352_*1160-1345... | |
| ENST00000698642.1:c.*1389-1352_*1389-1345delinsTTGCTTTG | ENSP00000513855.1:n.*1389-1352_*1389-1345... | |
| ENST00000698643.1:c.*1260-1352_*1260-1345delinsTTGCTTTG | ENSP00000513856.1:n.*1260-1352_*1260-1345... | |
| ENST00000698644.1:c.1728-1352_1728-1345delinsTTGCTTTG | ENSP00000513857.1:n.1728-1352_1728-1345de... | |
| ENST00000698645.1:c.1938-1352_1938-1345delinsTTGCTTTG | ENSP00000513858.1:n.1938-1352_1938-1345de... | |
| ENST00000698646.1:c.1836-1352_1836-1345delinsTTGCTTTG | ENSP00000513859.1:n.1836-1352_1836-1345de... | |
| ENST00000698647.1:c.*1557-1352_*1557-1345delinsTTGCTTTG | ENSP00000513860.1:n.*1557-1352_*1557-1345... | |
| ENST00000698648.1:c.*1343-1352_*1343-1345delinsTTGCTTTG | ENSP00000513862.1:n.*1343-1352_*1343-1345... | |
| ENST00000698649.1:n.90-1352_90-1345delinsTTGCTTTG | ||
| ENST00000381298.7:c.1938-1352_1938-1345delinsTTGCTTTG MANE Select | ENSP00000370698.2:n.1938-1352_1938-1345de... | |
| ENST00000651614.1:c.*890-1352_*890-1345delinsTTGCTTTG | ENSP00000498224.1:n.*890-1352_*890-1345de... | |
| ENST00000336909.9:c.1938-1352_1938-1345delinsTTGCTTTG | ENSP00000338799.5:n.1938-1352_1938-1345de... | |
| ENST00000381286.7:c.65-1352_65-1345delinsTTGCTTTG | ENSP00000370686.3:n.65-1352_65-1345delins... | |
| ENST00000381287.8:c.*865-1352_*865-1345delinsTTGCTTTG | ENSP00000370687.4:n.*865-1352_*865-1345de... | |
| ENST00000381293.6:c.476-1352_476-1345delinsTTGCTTTG | ENSP00000370693.2:n.476-1352_476-1345deli... | |
| ENST00000381294.7:c.1755-1352_1755-1345delinsTTGCTTTG | ENSP00000370694.3:n.1755-1352_1755-1345de... | |
| ENST00000381298.6:c.1938-1352_1938-1345delinsTTGCTTTG | ENSP00000370698.2:n.1938-1352_1938-1345de... | |
| ENST00000502326.7:c.1938-1352_1938-1345delinsTTGCTTTG | ENSP00000462158.1:n.1938-1352_1938-1345de... | |
| ENST00000503773.6:c.*982-1352_*982-1345delinsTTGCTTTG | ENSP00000426224.2:n.*982-1352_*982-1345de... | |
| ENST00000523039.5:n.103-1352_103-1345delinsTTGCTTTG | ||
| ENST00000583149.1:n.272-1352_272-1345delinsTTGCTTTG | ||
| NM_001190981.1:c.1755-1352_1755-1345delinsTTGCTTTG | NP_001177910.1:n.1755-1352_1755-1345delin... | |
| NM_002184.3:c.1938-1352_1938-1345delinsTTGCTTTG | NP_002175.2:n.1938-1352_1938-1345delinsTT... | |
| NM_175767.2:c.*865-1352_*865-1345delinsTTGCTTTG | NP_786943.1:n.*865-1352_*865-1345delinsTT... | |
| NR_120480.1:n.2297-1352_2297-1345delinsTTGCTTTG | ||
| NM_001364275.1:c.1836-1352_1836-1345delinsTTGCTTTG | NP_001351204.1:n.1836-1352_1836-1345delin... | |
| NM_001364276.1:c.1728-1352_1728-1345delinsTTGCTTTG | NP_001351205.1:n.1728-1352_1728-1345delin... | |
| NM_001364277.1:c.1071-1352_1071-1345delinsTTGCTTTG | NP_001351206.1:n.1071-1352_1071-1345delin... | |
| NM_001364278.1:c.1035-1352_1035-1345delinsTTGCTTTG | NP_001351207.1:n.1035-1352_1035-1345delin... | |
| NM_001364279.1:c.942-1352_942-1345delinsTTGCTTTG | NP_001351208.1:n.942-1352_942-1345delinsT... | |
| NR_157112.1:n.3102-1352_3102-1345delinsTTGCTTTG | ||
| NM_002184.4:c.1938-1352_1938-1345delinsTTGCTTTG MANE Select | NP_002175.2:n.1938-1352_1938-1345delinsTT... | |
| NM_001190981.2:c.1755-1352_1755-1345delinsTTGCTTTG | NP_001177910.1:n.1755-1352_1755-1345delin... | |
| NM_001364275.2:c.1836-1352_1836-1345delinsTTGCTTTG | NP_001351204.1:n.1836-1352_1836-1345delin... | |
| NM_001364276.2:c.1728-1352_1728-1345delinsTTGCTTTG | NP_001351205.1:n.1728-1352_1728-1345delin... | |
| NM_001364277.2:c.1071-1352_1071-1345delinsTTGCTTTG | NP_001351206.1:n.1071-1352_1071-1345delin... | |
| NM_001364278.2:c.1035-1352_1035-1345delinsTTGCTTTG | NP_001351207.1:n.1035-1352_1035-1345delin... | |
| NM_001364279.2:c.942-1352_942-1345delinsTTGCTTTG | NP_001351208.1:n.942-1352_942-1345delinsT... | |
| NM_175767.3:c.*865-1352_*865-1345delinsTTGCTTTG | NP_786943.1:n.*865-1352_*865-1345delinsTT... | |
| NR_120480.2:n.2267-1352_2267-1345delinsTTGCTTTG | ||
| NR_157112.2:n.3102-1352_3102-1345delinsTTGCTTTG |