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.43094226_43094238delinsATCACTGGCCAGT , CM000679.2:g.43094226_43094238delinsATCACTGGCCAGT | GRCh38 |
| NC_000017.10:g.41246243_41246255delinsATCACTGGCCAGT , CM000679.1:g.41246243_41246255delinsATCACTGGCCAGT | GRCh37 |
| NC_000017.9:g.38499769_38499781delinsATCACTGGCCAGT | NCBI36 |
| NG_005905.2:g.123746_123758delinsACTGGCCAGTGAT , LRG_292:g.123746_123758delinsACTGGCCAGTGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1357_1369delinsACTGGCCAGTGAT | ||
| ENST00000461574.2:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000417241.2:p.Leu431= | |
| ENST00000470026.6:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000419274.2:p.Leu431= | |
| ENST00000473961.6:c.1167_1179delinsACTGGCCAGTGAT | ENSP00000420201.2:p.Leu389= | |
| ENST00000476777.6:c.1290_1302delinsACTGGCCAGTGAT | ENSP00000417554.2:p.Leu430= | |
| ENST00000477152.6:c.1215_1227delinsACTGGCCAGTGAT | ENSP00000419988.2:p.Leu405= | |
| ENST00000478531.6:c.784+506_784+518delinsACTGGCCAGTGAT | ENSP00000420412.2:n.784+506_784+518delins... | |
| ENST00000489037.2:c.1215_1227delinsACTGGCCAGTGAT | ENSP00000420781.2:p.Leu405= | |
| ENST00000493919.6:c.646+506_646+518delinsACTGGCCAGTGAT | ENSP00000418819.2:n.646+506_646+518delins... | |
| ENST00000494123.6:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000419103.2:p.Leu431= | |
| ENST00000497488.2:c.405_417delinsACTGGCCAGTGAT | ENSP00000418986.2:p.Leu135= | |
| ENST00000618469.2:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000478114.2:p.Leu431= | |
| ENST00000634433.2:c.1170_1182delinsACTGGCCAGTGAT | ENSP00000489431.2:p.Leu390= | |
| ENST00000644379.2:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000496570.2:p.Leu431= | |
| ENST00000644555.2:c.646+506_646+518delinsACTGGCCAGTGAT | ENSP00000494614.2:n.646+506_646+518delins... | |
| ENST00000652672.2:c.1152_1164delinsACTGGCCAGTGAT | ENSP00000498906.2:p.Leu384= | |
| ENST00000484087.6:c.664+506_664+518delinsACTGGCCAGTGAT | ENSP00000419481.2:n.664+506_664+518delins... | |
| ENST00000700182.1:c.706+506_706+518delinsACTGGCCAGTGAT | ENSP00000514849.1:n.706+506_706+518delins... | |
| ENST00000700183.1:c.*1301_*1313delinsACTGGCCAGTGAT | ENSP00000514850.1:n.*1301_*1313delinsACTG... | |
| ENST00000357654.9:c.1293_1305delinsACTGGCCAGTGAT MANE Select | ENSP00000350283.3:p.Leu431= | |
| ENST00000471181.7:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000418960.2:p.Leu431= | |
| ENST00000652672.1:c.1152_1164delinsACTGGCCAGTGAT | ENSP00000498906.1:p.Leu384= | |
| ENST00000352993.7:c.670+1608_670+1620delinsACTGGCCAGTGAT | ENSP00000312236.5:n.670+1608_670+1620deli... | |
| ENST00000354071.7:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000326002.7:p.Leu431= | |
| ENST00000357654.7:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000350283.3:p.Leu431= | |
| ENST00000412061.3:c.644_656delinsACTGGCCAGTGAT | ||
| ENST00000461221.5:c.*1076_*1088delinsACTGGCCAGTGAT | ENSP00000418548.1:n.*1076_*1088delinsACTG... | |
| ENST00000468300.5:c.787+506_787+518delinsACTGGCCAGTGAT | ENSP00000417148.1:n.787+506_787+518delins... | |
| ENST00000470026.5:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000419274.1:p.Leu431= | |
| ENST00000471181.6:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000418960.2:p.Leu431= | |
| ENST00000473961.5:c.890_902delinsACTGGCCAGTGAT | ||
| ENST00000477152.5:c.1215_1227delinsACTGGCCAGTGAT | ENSP00000419988.1:p.Leu405= | |
| ENST00000478531.5:c.784+506_784+518delinsACTGGCCAGTGAT | ENSP00000420412.1:n.784+506_784+518delins... | |
| ENST00000484087.5:c.409+506_409+518delinsACTGGCCAGTGAT | ENSP00000419481.1:n.409+506_409+518delins... | |
| ENST00000487825.5:c.412+506_412+518delinsACTGGCCAGTGAT | ENSP00000418212.1:n.412+506_412+518delins... | |
| ENST00000491747.6:c.787+506_787+518delinsACTGGCCAGTGAT | ENSP00000420705.2:n.787+506_787+518delins... | |
| ENST00000492859.5:c.*1229_*1241delinsACTGGCCAGTGAT | ENSP00000420253.1:n.*1229_*1241delinsACTG... | |
| ENST00000493795.5:c.1152_1164delinsACTGGCCAGTGAT | ENSP00000418775.1:p.Leu384= | |
| ENST00000493919.5:c.646+506_646+518delinsACTGGCCAGTGAT | ENSP00000418819.1:n.646+506_646+518delins... | |
| ENST00000494123.5:c.1293_1305delinsACTGGCCAGTGAT | ENSP00000419103.1:p.Leu431= | |
| ENST00000497488.1:c.405_417delinsACTGGCCAGTGAT | ENSP00000418986.1:p.Leu135= | |
| ENST00000586385.5:c.5-30287_5-30275delinsACTGGCCAGTGAT | ENSP00000465818.1:n.5-30287_5-30275delins... | |
| ENST00000591534.5:c.-43-19717_-43-19705delinsACTGGCCAGTGAT | ENSP00000467329.1:n.-43-19717_-43-19705de... | |
| ENST00000591849.5:c.-99+31033_-99+31045delinsACTGGCCAGTGAT | ENSP00000465347.1:n.-99+31033_-99+31045de... | |
| ENST00000634433.1:c.1170_1182delinsACTGGCCAGTGAT | ENSP00000489431.1:p.Leu390= | |
| NM_007294.3:c.1293_1305delinsACTGGCCAGTGAT , LRG_292t1:c.1293_1305delinsACTGGCCAGTGAT | NP_009225.1:p.Leu431= | |
| NM_007297.3:c.1152_1164delinsACTGGCCAGTGAT | NP_009228.2:p.Leu384= | |
| NM_007298.3:c.787+506_787+518delinsACTGGCCAGTGAT | NP_009229.2:n.787+506_787+518delinsACTGGC... | |
| NM_007299.3:c.787+506_787+518delinsACTGGCCAGTGAT | NP_009230.2:n.787+506_787+518delinsACTGGC... | |
| NM_007300.3:c.1293_1305delinsACTGGCCAGTGAT | NP_009231.2:p.Leu431= | |
| NR_027676.1:n.1429_1441delinsACTGGCCAGTGAT | ||
| NM_007294.4:c.1293_1305delinsACTGGCCAGTGAT MANE Select | NP_009225.1:p.Leu431= | |
| NM_007297.4:c.1152_1164delinsACTGGCCAGTGAT | NP_009228.2:p.Leu384= | |
| NM_007299.4:c.787+506_787+518delinsACTGGCCAGTGAT | NP_009230.2:n.787+506_787+518delinsACTGGC... | |
| NM_007300.4:c.1293_1305delinsACTGGCCAGTGAT | NP_009231.2:p.Leu431= | |
| NR_027676.2:n.1470_1482delinsACTGGCCAGTGAT |