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_000006.12:g.154040758_154040760delinsCAA , CM000668.2:g.154040758_154040760delinsCAA | GRCh38 |
| NC_000006.11:g.154361893_154361895delinsCAA , CM000668.1:g.154361893_154361895delinsCAA | GRCh37 |
| NC_000006.10:g.154403586_154403588delinsCAA | NCBI36 |
| NG_021208.1:g.35258_35260delinsCAA | |
| NG_021208.2:g.35258_35260delinsCAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.290+924_290+926delinsCAA MANE Select | ENSP00000328264.7:n.290+924_290+926delins... | |
| ENST00000229768.9:c.290+924_290+926delinsCAA | ENSP00000229768.5:n.290+924_290+926delins... | |
| ENST00000330432.11:c.290+924_290+926delinsCAA | ENSP00000328264.7:n.290+924_290+926delins... | |
| ENST00000337049.8:c.290+924_290+926delinsCAA | ENSP00000338381.4:n.290+924_290+926delins... | |
| ENST00000360422.8:c.476+924_476+926delinsCAA | ENSP00000353598.5:n.476+924_476+926delins... | |
| ENST00000414028.6:c.290+924_290+926delinsCAA | ENSP00000399359.2:n.290+924_290+926delins... | |
| ENST00000419506.6:c.290+924_290+926delinsCAA | ENSP00000403549.2:n.290+924_290+926delins... | |
| ENST00000428397.6:c.290+924_290+926delinsCAA | ENSP00000411903.2:n.290+924_290+926delins... | |
| ENST00000434900.6:c.569+924_569+926delinsCAA | ENSP00000394624.2:n.569+924_569+926delins... | |
| ENST00000435918.6:c.290+924_290+926delinsCAA | ENSP00000413752.2:n.290+924_290+926delins... | |
| ENST00000452687.6:c.290+924_290+926delinsCAA | ENSP00000410497.2:n.290+924_290+926delins... | |
| ENST00000518759.5:c.47+30199_47+30201delinsCAA | ENSP00000430260.1:n.47+30199_47+30201deli... | |
| ENST00000519083.5:c.290+924_290+926delinsCAA | ENSP00000431048.1:n.290+924_290+926delins... | |
| ENST00000520282.5:c.434+924_434+926delinsCAA | ENSP00000430247.1:n.434+924_434+926delins... | |
| ENST00000520708.5:c.-11+29740_-11+29742delinsCAA | ENSP00000430876.1:n.-11+29740_-11+29742de... | |
| ENST00000522739.5:c.290+924_290+926delinsCAA | ENSP00000428018.1:n.290+924_290+926delins... | |
| ENST00000523520.1:n.471+924_471+926delinsCAA | ||
| ENST00000524150.2:c.290+924_290+926delinsCAA | ENSP00000430575.1:n.290+924_290+926delins... | |
| ENST00000524163.5:c.290+924_290+926delinsCAA | ENSP00000430097.1:n.290+924_290+926delins... | |
| NM_000914.4:c.290+924_290+926delinsCAA | NP_000905.3:n.290+924_290+926delinsCAA | |
| NM_001008503.2:c.290+924_290+926delinsCAA | NP_001008503.2:n.290+924_290+926delinsCAA... | |
| NM_001008504.3:c.290+924_290+926delinsCAA | NP_001008504.2:n.290+924_290+926delinsCAA... | |
| NM_001008505.2:c.290+924_290+926delinsCAA | NP_001008505.2:n.290+924_290+926delinsCAA... | |
| NM_001145279.3:c.569+924_569+926delinsCAA | NP_001138751.1:n.569+924_569+926delinsCAA... | |
| NM_001145280.3:c.-11+29740_-11+29742delinsCAA | NP_001138752.1:n.-11+29740_-11+29742delin... | |
| NM_001145281.2:c.47+30199_47+30201delinsCAA | NP_001138753.1:n.47+30199_47+30201delinsC... | |
| NM_001145282.2:c.290+924_290+926delinsCAA | NP_001138754.1:n.290+924_290+926delinsCAA... | |
| NM_001145283.2:c.290+924_290+926delinsCAA | NP_001138755.1:n.290+924_290+926delinsCAA... | |
| NM_001145284.3:c.290+924_290+926delinsCAA | NP_001138756.1:n.290+924_290+926delinsCAA... | |
| NM_001145285.2:c.290+924_290+926delinsCAA | NP_001138757.1:n.290+924_290+926delinsCAA... | |
| NM_001145286.2:c.290+924_290+926delinsCAA | NP_001138758.1:n.290+924_290+926delinsCAA... | |
| NM_001285522.1:c.290+924_290+926delinsCAA | NP_001272451.1:n.290+924_290+926delinsCAA... | |
| NM_001285523.1:c.290+924_290+926delinsCAA | NP_001272452.1:n.290+924_290+926delinsCAA... | |
| NM_001285524.1:c.569+924_569+926delinsCAA | NP_001272453.1:n.569+924_569+926delinsCAA... | |
| NR_104348.1:n.424+924_424+926delinsCAA | ||
| NR_104349.1:n.424+924_424+926delinsCAA | ||
| NR_104350.1:n.424+924_424+926delinsCAA | ||
| NR_104351.1:n.424+924_424+926delinsCAA | ||
| XM_006715497.2:c.476+924_476+926delinsCAA | XP_006715560.1:n.476+924_476+926delinsCAA... | |
| XM_011535849.1:c.569+924_569+926delinsCAA | XP_011534151.1:n.569+924_569+926delinsCAA... | |
| NM_001285523.2:c.290+924_290+926delinsCAA | NP_001272452.1:n.290+924_290+926delinsCAA... | |
| XM_017010907.2:c.476+924_476+926delinsCAA | XP_016866396.1:n.476+924_476+926delinsCAA... | |
| NM_000914.5:c.290+924_290+926delinsCAA MANE Select | NP_000905.3:n.290+924_290+926delinsCAA | |
| NM_001008503.3:c.290+924_290+926delinsCAA | NP_001008503.2:n.290+924_290+926delinsCAA... | |
| NM_001008504.4:c.290+924_290+926delinsCAA | NP_001008504.2:n.290+924_290+926delinsCAA... | |
| NM_001145279.4:c.569+924_569+926delinsCAA | NP_001138751.1:n.569+924_569+926delinsCAA... | |
| NM_001145280.4:c.-11+29740_-11+29742delinsCAA | NP_001138752.1:n.-11+29740_-11+29742delin... | |
| NM_001145281.3:c.47+30199_47+30201delinsCAA | NP_001138753.1:n.47+30199_47+30201delinsC... | |
| NM_001145285.3:c.290+924_290+926delinsCAA | NP_001138757.1:n.290+924_290+926delinsCAA... | |
| NM_001145286.3:c.290+924_290+926delinsCAA | NP_001138758.1:n.290+924_290+926delinsCAA... | |
| NM_001285523.3:c.290+924_290+926delinsCAA | NP_001272452.1:n.290+924_290+926delinsCAA... |