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_000017.11:g.43080366_43080368dup , CM000679.2:g.43080366_43080368dup | GRCh38 |
| NC_000017.10:g.41232383_41232385dup , CM000679.1:g.41232383_41232385dup | GRCh37 |
| NC_000017.9:g.38485909_38485911dup | NCBI36 |
| NG_005905.2:g.137619_137621dup , LRG_292:g.137619_137621dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4357+2039_4357+2041dup | ENSP00000417241.2:n.4357+2039_4357+2041du... | |
| ENST00000470026.6:c.4357+2039_4357+2041dup | ENSP00000419274.2:n.4357+2039_4357+2041du... | |
| ENST00000473961.6:c.4231+2039_4231+2041dup | ENSP00000420201.2:n.4231+2039_4231+2041du... | |
| ENST00000476777.6:c.4351+2039_4351+2041dup | ENSP00000417554.2:n.4351+2039_4351+2041du... | |
| ENST00000477152.6:c.4279+2039_4279+2041dup | ENSP00000419988.2:n.4279+2039_4279+2041du... | |
| ENST00000478531.6:c.1045+2039_1045+2041dup | ENSP00000420412.2:n.1045+2039_1045+2041du... | |
| ENST00000489037.2:c.4279+2039_4279+2041dup | ENSP00000420781.2:n.4279+2039_4279+2041du... | |
| ENST00000493919.6:c.907+2039_907+2041dup | ENSP00000418819.2:n.907+2039_907+2041dup | |
| ENST00000494123.6:c.4357+2039_4357+2041dup | ENSP00000419103.2:n.4357+2039_4357+2041du... | |
| ENST00000497488.2:c.3469+2039_3469+2041dup | ENSP00000418986.2:n.3469+2039_3469+2041du... | |
| ENST00000618469.2:c.4357+2039_4357+2041dup | ENSP00000478114.2:n.4357+2039_4357+2041du... | |
| ENST00000634433.2:c.4234+2039_4234+2041dup | ENSP00000489431.2:n.4234+2039_4234+2041du... | |
| ENST00000644379.2:c.4358-966_4358-964dup | ENSP00000496570.2:n.4358-966_4358-964dup | |
| ENST00000644555.2:c.907+2039_907+2041dup | ENSP00000494614.2:n.907+2039_907+2041dup | |
| ENST00000652672.2:c.4216+2039_4216+2041dup | ENSP00000498906.2:n.4216+2039_4216+2041du... | |
| ENST00000484087.6:c.922+2039_922+2041dup | ENSP00000419481.2:n.922+2039_922+2041dup | |
| ENST00000700182.1:c.967+2039_967+2041dup | ENSP00000514849.1:n.967+2039_967+2041dup | |
| ENST00000357654.9:c.4357+2039_4357+2041dup MANE Select | ENSP00000350283.3:n.4357+2039_4357+2041du... | |
| ENST00000471181.7:c.4358-966_4358-964dup | ENSP00000418960.2:n.4358-966_4358-964dup | |
| ENST00000644379.1:c.679-966_679-964dup | ||
| ENST00000352993.7:c.931+2039_931+2041dup | ENSP00000312236.5:n.931+2039_931+2041dup | |
| ENST00000357654.7:c.4357+2039_4357+2041dup | ENSP00000350283.3:n.4357+2039_4357+2041du... | |
| ENST00000461221.5:c.*4140+2039_*4140+2041dup | ENSP00000418548.1:n.*4140+2039_*4140+2041... | |
| ENST00000461574.1:c.651+2039_651+2041dup | ||
| ENST00000468300.5:c.1048+2039_1048+2041dup | ENSP00000417148.1:n.1048+2039_1048+2041du... | |
| ENST00000471181.6:c.4358-966_4358-964dup | ENSP00000418960.2:n.4358-966_4358-964dup | |
| ENST00000478531.5:c.1045+2039_1045+2041dup | ENSP00000420412.1:n.1045+2039_1045+2041du... | |
| ENST00000484087.5:c.670+2039_670+2041dup | ENSP00000419481.1:n.670+2039_670+2041dup | |
| ENST00000487825.5:c.673+2039_673+2041dup | ENSP00000418212.1:n.673+2039_673+2041dup | |
| ENST00000491747.6:c.1048+2039_1048+2041dup | ENSP00000420705.2:n.1048+2039_1048+2041du... | |
| ENST00000493795.5:c.4216+2039_4216+2041dup | ENSP00000418775.1:n.4216+2039_4216+2041du... | |
| ENST00000493919.5:c.907+2039_907+2041dup | ENSP00000418819.1:n.907+2039_907+2041dup | |
| ENST00000586385.5:c.5-16414_5-16412dup | ENSP00000465818.1:n.5-16414_5-16412dup | |
| ENST00000591534.5:c.-43-5844_-43-5842dup | ENSP00000467329.1:n.-43-5844_-43-5842dup | |
| ENST00000591849.5:c.-98-30175_-98-30173dup | ENSP00000465347.1:n.-98-30175_-98-30173du... | |
| ENST00000621897.1:n.251+2039_251+2041dup | ||
| NM_007294.3:c.4357+2039_4357+2041dup , LRG_292t1:c.4357+2039_4357+2041dup | NP_009225.1:n.4357+2039_4357+2041dup | |
| NM_007297.3:c.4216+2039_4216+2041dup | NP_009228.2:n.4216+2039_4216+2041dup | |
| NM_007298.3:c.1048+2039_1048+2041dup | NP_009229.2:n.1048+2039_1048+2041dup | |
| NM_007299.3:c.1048+2039_1048+2041dup | NP_009230.2:n.1048+2039_1048+2041dup | |
| NM_007300.3:c.4358-966_4358-964dup | NP_009231.2:n.4358-966_4358-964dup | |
| NR_027676.1:n.4493+2039_4493+2041dup | ||
| NM_007294.4:c.4357+2039_4357+2041dup MANE Select | NP_009225.1:n.4357+2039_4357+2041dup | |
| NM_007297.4:c.4216+2039_4216+2041dup | NP_009228.2:n.4216+2039_4216+2041dup | |
| NM_007299.4:c.1048+2039_1048+2041dup | NP_009230.2:n.1048+2039_1048+2041dup | |
| NM_007300.4:c.4358-966_4358-964dup | NP_009231.2:n.4358-966_4358-964dup | |
| NR_027676.2:n.4534+2039_4534+2041dup |