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.
Linked Data
ClinVar Variation Id:
266177
ClinVar RCV Id:
RCV000257606
dbSNP Id:
rs483353085
MyVariant Identifiers:
chr17:g.41245863_41245911delinsCTTTC (hg19)
chr17:g.43093846_43093894delinsCTTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093846_43093894delinsCTTTC , CM000679.2:g.43093846_43093894delinsCTTTC | GRCh38 |
| NC_000017.10:g.41245863_41245911delinsCTTTC , CM000679.1:g.41245863_41245911delinsCTTTC | GRCh37 |
| NC_000017.9:g.38499389_38499437delinsCTTTC | NCBI36 |
| NG_005905.2:g.124090_124138delinsGAAAG , LRG_292:g.124090_124138delinsGAAAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1701_1749delinsGAAAG | ||
| ENST00000461574.2:c.1637_1685delinsGAAAG | ENSP00000417241.2:p.Met546ArgfsTer5 | |
| ENST00000470026.6:c.1637_1685delinsGAAAG | ENSP00000419274.2:p.Met546ArgfsTer5 | |
| ENST00000473961.6:c.1511_1559delinsGAAAG | ENSP00000420201.2:p.Met504ArgfsTer5 | |
| ENST00000476777.6:c.1634_1682delinsGAAAG | ENSP00000417554.2:p.Met545ArgfsTer5 | |
| ENST00000477152.6:c.1559_1607delinsGAAAG | ENSP00000419988.2:p.Met520ArgfsTer5 | |
| ENST00000478531.6:c.784+850_784+898delinsGAAAG | ENSP00000420412.2:n.784+850_784+898delins... | |
| ENST00000489037.2:c.1559_1607delinsGAAAG | ENSP00000420781.2:p.Met520ArgfsTer5 | |
| ENST00000493919.6:c.646+850_646+898delinsGAAAG | ENSP00000418819.2:n.646+850_646+898delins... | |
| ENST00000494123.6:c.1637_1685delinsGAAAG | ENSP00000419103.2:p.Met546ArgfsTer5 | |
| ENST00000497488.2:c.749_797delinsGAAAG | ENSP00000418986.2:p.Met250ArgfsTer5 | |
| ENST00000618469.2:c.1637_1685delinsGAAAG | ENSP00000478114.2:p.Met546ArgfsTer5 | |
| ENST00000634433.2:c.1514_1562delinsGAAAG | ENSP00000489431.2:p.Met505ArgfsTer5 | |
| ENST00000644379.2:c.1637_1685delinsGAAAG | ENSP00000496570.2:p.Met546ArgfsTer5 | |
| ENST00000644555.2:c.646+850_646+898delinsGAAAG | ENSP00000494614.2:n.646+850_646+898delins... | |
| ENST00000652672.2:c.1496_1544delinsGAAAG | ENSP00000498906.2:p.Met499ArgfsTer5 | |
| ENST00000484087.6:c.664+850_664+898delinsGAAAG | ENSP00000419481.2:n.664+850_664+898delins... | |
| ENST00000700182.1:c.706+850_706+898delinsGAAAG | ENSP00000514849.1:n.706+850_706+898delins... | |
| ENST00000357654.9:c.1637_1685delinsGAAAG MANE Select | ENSP00000350283.3:p.Met546ArgfsTer5 | |
| ENST00000471181.7:c.1637_1685delinsGAAAG | ENSP00000418960.2:p.Met546ArgfsTer5 | |
| ENST00000652672.1:c.1496_1544delinsGAAAG | ENSP00000498906.1:p.Met499ArgfsTer5 | |
| ENST00000352993.7:c.670+1952_670+2000delinsGAAAG | ENSP00000312236.5:n.670+1952_670+2000deli... | |
| ENST00000354071.7:c.1637_1685delinsGAAAG | ENSP00000326002.7:p.Met546ArgfsTer5 | |
| ENST00000357654.7:c.1637_1685delinsGAAAG | ENSP00000350283.3:p.Met546ArgfsTer5 | |
| ENST00000412061.3:c.988_1036delinsGAAAG | ||
| ENST00000461221.5:c.*1420_*1468delinsGAAAG | ENSP00000418548.1:n.*1420_*1468delinsGAAA... | |
| ENST00000468300.5:c.787+850_787+898delinsGAAAG | ENSP00000417148.1:n.787+850_787+898delins... | |
| ENST00000470026.5:c.1637_1685delinsGAAAG | ENSP00000419274.1:p.Met546ArgfsTer5 | |
| ENST00000471181.6:c.1637_1685delinsGAAAG | ENSP00000418960.2:p.Met546ArgfsTer5 | |
| ENST00000477152.5:c.1559_1607delinsGAAAG | ENSP00000419988.1:p.Met520ArgfsTer5 | |
| ENST00000478531.5:c.784+850_784+898delinsGAAAG | ENSP00000420412.1:n.784+850_784+898delins... | |
| ENST00000484087.5:c.409+850_409+898delinsGAAAG | ENSP00000419481.1:n.409+850_409+898delins... | |
| ENST00000487825.5:c.412+850_412+898delinsGAAAG | ENSP00000418212.1:n.412+850_412+898delins... | |
| ENST00000491747.6:c.787+850_787+898delinsGAAAG | ENSP00000420705.2:n.787+850_787+898delins... | |
| ENST00000493795.5:c.1496_1544delinsGAAAG | ENSP00000418775.1:p.Met499ArgfsTer5 | |
| ENST00000493919.5:c.646+850_646+898delinsGAAAG | ENSP00000418819.1:n.646+850_646+898delins... | |
| ENST00000586385.5:c.5-29943_5-29895delinsGAAAG | ENSP00000465818.1:n.5-29943_5-29895delins... | |
| ENST00000591534.5:c.-43-19373_-43-19325delinsGAAAG | ENSP00000467329.1:n.-43-19373_-43-19325de... | |
| ENST00000591849.5:c.-99+31377_-99+31425delinsGAAAG | ENSP00000465347.1:n.-99+31377_-99+31425de... | |
| ENST00000634433.1:c.1514_1562delinsGAAAG | ENSP00000489431.1:p.Met505ArgfsTer5 | |
| NM_007294.3:c.1637_1685delinsGAAAG , LRG_292t1:c.1637_1685delinsGAAAG | NP_009225.1:p.Met546ArgfsTer5 | |
| NM_007297.3:c.1496_1544delinsGAAAG | NP_009228.2:p.Met499ArgfsTer5 | |
| NM_007298.3:c.787+850_787+898delinsGAAAG | NP_009229.2:n.787+850_787+898delinsGAAAG | |
| NM_007299.3:c.787+850_787+898delinsGAAAG | NP_009230.2:n.787+850_787+898delinsGAAAG | |
| NM_007300.3:c.1637_1685delinsGAAAG | NP_009231.2:p.Met546ArgfsTer5 | |
| NR_027676.1:n.1773_1821delinsGAAAG | ||
| NM_007294.4:c.1637_1685delinsGAAAG MANE Select | NP_009225.1:p.Met546ArgfsTer5 | |
| NM_007297.4:c.1496_1544delinsGAAAG | NP_009228.2:p.Met499ArgfsTer5 | |
| NM_007299.4:c.787+850_787+898delinsGAAAG | NP_009230.2:n.787+850_787+898delinsGAAAG | |
| NM_007300.4:c.1637_1685delinsGAAAG | NP_009231.2:p.Met546ArgfsTer5 | |
| NR_027676.2:n.1814_1862delinsGAAAG |