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_000001.11:g.28993330_28997319del , CM000663.2:g.28993330_28997319del | GRCh38 |
| NC_000001.10:g.29319842_29323831del , CM000663.1:g.29319842_29323831del | GRCh37 |
| NC_000001.9:g.29192429_29196418del | NCBI36 |
| NG_013344.1:g.111240_115229del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706361.1:c.469_786del | ||
| ENST00000343067.9:c.469_786del | ||
| ENST00000349460.9:c.469_786del | ||
| ENST00000373797.2:c.469_786del | ||
| ENST00000482464.6:n.551_868del | ||
| ENST00000642643.1:c.296_613del | ||
| ENST00000642937.2:c.-159_159del | ||
| ENST00000643155.1:c.*63_*380del | ||
| ENST00000643173.1:c.469_786del | ||
| ENST00000643302.1:n.396_713del | ||
| ENST00000643604.1:c.469_786del | ||
| ENST00000644342.1:c.-159_159del | ||
| ENST00000644600.1:c.469_786del | ||
| ENST00000644780.1:c.469-3885_573del | ||
| ENST00000645111.1:n.409_621+3777del | ||
| ENST00000645184.1:c.469_786del | ||
| ENST00000645999.1:n.396_713del | ||
| ENST00000646189.1:c.-159_159del | ||
| ENST00000646260.1:c.469_786del | ||
| ENST00000646800.1:c.-159_159del | ||
| ENST00000647103.1:c.-159_159del | ||
| ENST00000647918.1:n.567_884del | ||
| ENST00000648181.1:c.468+5425_468+9414del | ENSP00000498195.1:n.468+5425_468+9414del | |
| ENST00000648891.1:c.469_786del | ||
| ENST00000649674.1:n.683_895+3777del | ||
| ENST00000649717.1:c.-159_159del | ||
| ENST00000650265.1:c.469_786del | ||
| ENST00000343067.8:c.469_786del | ||
| ENST00000347529.7:c.469_681+3777del | ||
| ENST00000349460.8:c.-159_159del | ||
| ENST00000356093.6:c.-159_159del | ||
| ENST00000373797.1:c.469_786del | ||
| ENST00000373798.5:c.469_786del | ||
| ENST00000373800.7:c.-159_159del | ||
| NM_001166005.1:c.469_786del | ||
| NM_001166006.1:c.469_786del | ||
| NM_001166007.1:c.-159_159del | ||
| NM_004437.3:c.-159_159del | ||
| NM_203342.2:c.-159_159del | ||
| NM_203343.2:c.469_681+3777del | ||
| XM_005245753.1:c.469_786del | ||
| XM_005245757.1:c.469_786del | ||
| XM_005245760.1:c.469_786del | ||
| XM_005245761.1:c.469_786del | ||
| XM_005245763.1:c.469_786del | ||
| XM_005245764.1:c.469_786del | ||
| XM_005245765.1:c.469_786del | ||
| XM_005245767.3:c.469_786del | ||
| XM_005245768.1:c.469_786del | ||
| XM_005245769.1:c.469_786del | ||
| XM_005245770.1:c.469_786del | ||
| XM_005245772.3:c.469_786del | ||
| XM_005245773.3:c.469_786del | ||
| XM_005245774.1:c.469_786del | ||
| XM_006710434.1:c.469_786del | ||
| XM_006710439.1:c.469_786del | ||
| XM_011540956.1:c.469_786del | ||
| XM_011540957.1:c.469_786del | ||
| XM_011540958.1:c.469_786del | ||
| XM_011540959.1:c.469_786del | ||
| XM_011540960.1:c.469_786del | ||
| XM_011540961.1:c.469_786del | ||
| XM_011540962.1:c.469_786del | ||
| XM_011540963.1:c.469_786del | ||
| XM_011540964.1:c.-159_159del | ||
| XM_011540965.1:c.469_786del | ||
| XM_011540966.1:c.469_786del | ||
| XM_005245772.4:c.469_786del | ||
| XM_005245773.4:c.469_786del | ||
| XM_011540963.2:c.469_786del | ||
| XM_011540965.3:c.469_786del | ||
| XM_017000581.1:c.469_681+3777del | ||
| XM_017000582.1:c.469_681+3777del | ||
| XM_017000583.1:c.469_786del | ||
| XM_017000584.2:c.469_786del | ||
| XM_017000585.2:c.469_786del | ||
| XM_017000586.1:c.469_786del | ||
| XM_017000587.1:c.469_786del | ||
| XM_017000588.1:c.469_786del | ||
| XM_017000589.1:c.469_681+3777del | ||
| XM_017000590.1:c.469_681+3777del | ||
| XM_017000591.1:c.469_786del | ||
| XM_017000592.1:c.469_786del | ||
| XM_017000593.1:c.-159_159del | ||
| XM_017000594.1:c.-159_159del | ||
| XM_017000595.1:c.-159_159del | ||
| XM_017000596.1:c.-159_159del | ||
| XM_017000597.1:c.-159_159del | ||
| XM_017000598.1:c.-159_159del | ||
| XM_017000599.1:c.-159_159del | ||
| XM_017000600.1:c.-159_159del | ||
| XM_017000602.1:c.-159_159del | ||
| XM_017000603.1:c.-159_159del | ||
| XM_017000604.1:c.-159_159del | ||
| XM_024453880.1:c.-159_54+3777del | ||
| NM_001166007.2:c.-159_159del | ||
| NM_001376013.1:c.469_786del | ||
| NM_001376014.1:c.469_786del | ||
| NM_001376015.1:c.469_786del | ||
| NM_001376016.1:c.469_786del | ||
| NM_001376017.1:c.469_786del | ||
| NM_001376018.1:c.469_786del | ||
| NM_001376019.1:c.469_786del | ||
| NM_001376020.1:c.469_786del | ||
| NM_001376021.1:c.469_786del | ||
| NM_001376022.1:c.-159_159del | ||
| NM_001376023.1:c.-159_159del | ||
| NM_001376024.1:c.-159_159del | ||
| NM_001376025.1:c.-159_159del | ||
| NM_001376026.1:c.-159_159del | ||
| NM_001376027.1:c.-159_159del | ||
| NM_001376028.1:c.-159_159del | ||
| NM_004437.4:c.-159_159del | ||
| NM_203343.3:c.469_681+3777del | ||
| NM_001166005.2:c.469_786del | ||
| NM_001166006.2:c.469_786del | ||
| NM_203342.3:c.-159_159del |