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.43093951_43093955delinsCTT , CM000679.2:g.43093951_43093955delinsCTT | GRCh38 |
| NC_000017.10:g.41245968_41245972delinsCTT , CM000679.1:g.41245968_41245972delinsCTT | GRCh37 |
| NC_000017.9:g.38499494_38499498delinsCTT | NCBI36 |
| NG_005905.2:g.124029_124033delinsAAG , LRG_292:g.124029_124033delinsAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1640_1644delinsAAG | ||
| ENST00000461574.2:c.1576_1580delinsAAG | ENSP00000417241.2:p.Gln526LysfsTer4 | |
| ENST00000470026.6:c.1576_1580delinsAAG | ENSP00000419274.2:p.Gln526LysfsTer4 | |
| ENST00000473961.6:c.1450_1454delinsAAG | ENSP00000420201.2:p.Gln484LysfsTer4 | |
| ENST00000476777.6:c.1573_1577delinsAAG | ENSP00000417554.2:p.Gln525LysfsTer4 | |
| ENST00000477152.6:c.1498_1502delinsAAG | ENSP00000419988.2:p.Gln500LysfsTer4 | |
| ENST00000478531.6:c.784+789_784+793delinsAAG | ENSP00000420412.2:n.784+789_784+793delins... | |
| ENST00000489037.2:c.1498_1502delinsAAG | ENSP00000420781.2:p.Gln500LysfsTer4 | |
| ENST00000493919.6:c.646+789_646+793delinsAAG | ENSP00000418819.2:n.646+789_646+793delins... | |
| ENST00000494123.6:c.1576_1580delinsAAG | ENSP00000419103.2:p.Gln526LysfsTer4 | |
| ENST00000497488.2:c.688_692delinsAAG | ENSP00000418986.2:p.Gln230LysfsTer4 | |
| ENST00000618469.2:c.1576_1580delinsAAG | ENSP00000478114.2:p.Gln526LysfsTer4 | |
| ENST00000634433.2:c.1453_1457delinsAAG | ENSP00000489431.2:p.Gln485LysfsTer4 | |
| ENST00000644379.2:c.1576_1580delinsAAG | ENSP00000496570.2:p.Gln526LysfsTer4 | |
| ENST00000644555.2:c.646+789_646+793delinsAAG | ENSP00000494614.2:n.646+789_646+793delins... | |
| ENST00000652672.2:c.1435_1439delinsAAG | ENSP00000498906.2:p.Gln479LysfsTer4 | |
| ENST00000484087.6:c.664+789_664+793delinsAAG | ENSP00000419481.2:n.664+789_664+793delins... | |
| ENST00000700182.1:c.706+789_706+793delinsAAG | ENSP00000514849.1:n.706+789_706+793delins... | |
| ENST00000357654.9:c.1576_1580delinsAAG MANE Select | ENSP00000350283.3:p.Gln526LysfsTer4 | |
| ENST00000471181.7:c.1576_1580delinsAAG | ENSP00000418960.2:p.Gln526LysfsTer4 | |
| ENST00000652672.1:c.1435_1439delinsAAG | ENSP00000498906.1:p.Gln479LysfsTer4 | |
| ENST00000352993.7:c.670+1891_670+1895delinsAAG | ENSP00000312236.5:n.670+1891_670+1895deli... | |
| ENST00000354071.7:c.1576_1580delinsAAG | ENSP00000326002.7:p.Gln526LysfsTer4 | |
| ENST00000357654.7:c.1576_1580delinsAAG | ENSP00000350283.3:p.Gln526LysfsTer4 | |
| ENST00000412061.3:c.927_931delinsAAG | ||
| ENST00000461221.5:c.*1359_*1363delinsAAG | ENSP00000418548.1:n.*1359_*1363delinsAAG | |
| ENST00000468300.5:c.787+789_787+793delinsAAG | ENSP00000417148.1:n.787+789_787+793delins... | |
| ENST00000470026.5:c.1576_1580delinsAAG | ENSP00000419274.1:p.Gln526LysfsTer4 | |
| ENST00000471181.6:c.1576_1580delinsAAG | ENSP00000418960.2:p.Gln526LysfsTer4 | |
| ENST00000477152.5:c.1498_1502delinsAAG | ENSP00000419988.1:p.Gln500LysfsTer4 | |
| ENST00000478531.5:c.784+789_784+793delinsAAG | ENSP00000420412.1:n.784+789_784+793delins... | |
| ENST00000484087.5:c.409+789_409+793delinsAAG | ENSP00000419481.1:n.409+789_409+793delins... | |
| ENST00000487825.5:c.412+789_412+793delinsAAG | ENSP00000418212.1:n.412+789_412+793delins... | |
| ENST00000491747.6:c.787+789_787+793delinsAAG | ENSP00000420705.2:n.787+789_787+793delins... | |
| ENST00000493795.5:c.1435_1439delinsAAG | ENSP00000418775.1:p.Gln479LysfsTer4 | |
| ENST00000493919.5:c.646+789_646+793delinsAAG | ENSP00000418819.1:n.646+789_646+793delins... | |
| ENST00000586385.5:c.5-30004_5-30000delinsAAG | ENSP00000465818.1:n.5-30004_5-30000delins... | |
| ENST00000591534.5:c.-43-19434_-43-19430delinsAAG | ENSP00000467329.1:n.-43-19434_-43-19430de... | |
| ENST00000591849.5:c.-99+31316_-99+31320delinsAAG | ENSP00000465347.1:n.-99+31316_-99+31320de... | |
| ENST00000634433.1:c.1453_1457delinsAAG | ENSP00000489431.1:p.Gln485LysfsTer4 | |
| NM_007294.3:c.1576_1580delinsAAG , LRG_292t1:c.1576_1580delinsAAG | NP_009225.1:p.Gln526LysfsTer4 | |
| NM_007297.3:c.1435_1439delinsAAG | NP_009228.2:p.Gln479LysfsTer4 | |
| NM_007298.3:c.787+789_787+793delinsAAG | NP_009229.2:n.787+789_787+793delinsAAG | |
| NM_007299.3:c.787+789_787+793delinsAAG | NP_009230.2:n.787+789_787+793delinsAAG | |
| NM_007300.3:c.1576_1580delinsAAG | NP_009231.2:p.Gln526LysfsTer4 | |
| NR_027676.1:n.1712_1716delinsAAG | ||
| NM_007294.4:c.1576_1580delinsAAG MANE Select | NP_009225.1:p.Gln526LysfsTer4 | |
| NM_007297.4:c.1435_1439delinsAAG | NP_009228.2:p.Gln479LysfsTer4 | |
| NM_007299.4:c.787+789_787+793delinsAAG | NP_009230.2:n.787+789_787+793delinsAAG | |
| NM_007300.4:c.1576_1580delinsAAG | NP_009231.2:p.Gln526LysfsTer4 | |
| NR_027676.2:n.1753_1757delinsAAG |