Linked Data
ClinVar Variation Id:
431217
dbSNP Id:
rs1135401846
MyVariant Identifiers:
chr17:g.41245902_41245910delinsT (hg19)
chr17:g.43093885_43093893delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093885_43093893delinsT , CM000679.2:g.43093885_43093893delinsT | GRCh38 |
| NC_000017.10:g.41245902_41245910delinsT , CM000679.1:g.41245902_41245910delinsT | GRCh37 |
| NC_000017.9:g.38499428_38499436delinsT | NCBI36 |
| NG_005905.2:g.124091_124099delinsA , LRG_292:g.124091_124099delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1702_1710delinsA | ||
| ENST00000461574.2:c.1638_1646delinsA | ENSP00000417241.2:p.Met546IlefsTer2 | |
| ENST00000470026.6:c.1638_1646delinsA | ENSP00000419274.2:p.Met546IlefsTer2 | |
| ENST00000473961.6:c.1512_1520delinsA | ENSP00000420201.2:p.Met504IlefsTer2 | |
| ENST00000476777.6:c.1635_1643delinsA | ENSP00000417554.2:p.Met545IlefsTer2 | |
| ENST00000477152.6:c.1560_1568delinsA | ENSP00000419988.2:p.Met520IlefsTer2 | |
| ENST00000478531.6:c.784+851_784+859delinsA | ENSP00000420412.2:n.784+851_784+859delins... | |
| ENST00000489037.2:c.1560_1568delinsA | ENSP00000420781.2:p.Met520IlefsTer2 | |
| ENST00000493919.6:c.646+851_646+859delinsA | ENSP00000418819.2:n.646+851_646+859delins... | |
| ENST00000494123.6:c.1638_1646delinsA | ENSP00000419103.2:p.Met546IlefsTer2 | |
| ENST00000497488.2:c.750_758delinsA | ENSP00000418986.2:p.Met250IlefsTer2 | |
| ENST00000618469.2:c.1638_1646delinsA | ENSP00000478114.2:p.Met546IlefsTer2 | |
| ENST00000634433.2:c.1515_1523delinsA | ENSP00000489431.2:p.Met505IlefsTer2 | |
| ENST00000644379.2:c.1638_1646delinsA | ENSP00000496570.2:p.Met546IlefsTer2 | |
| ENST00000644555.2:c.646+851_646+859delinsA | ENSP00000494614.2:n.646+851_646+859delins... | |
| ENST00000652672.2:c.1497_1505delinsA | ENSP00000498906.2:p.Met499IlefsTer2 | |
| ENST00000484087.6:c.664+851_664+859delinsA | ENSP00000419481.2:n.664+851_664+859delins... | |
| ENST00000700182.1:c.706+851_706+859delinsA | ENSP00000514849.1:n.706+851_706+859delins... | |
| ENST00000357654.9:c.1638_1646delinsA MANE Select | ENSP00000350283.3:p.Met546IlefsTer2 | |
| ENST00000471181.7:c.1638_1646delinsA | ENSP00000418960.2:p.Met546IlefsTer2 | |
| ENST00000652672.1:c.1497_1505delinsA | ENSP00000498906.1:p.Met499IlefsTer2 | |
| ENST00000352993.7:c.670+1953_670+1961delinsA | ENSP00000312236.5:n.670+1953_670+1961deli... | |
| ENST00000354071.7:c.1638_1646delinsA | ENSP00000326002.7:p.Met546IlefsTer2 | |
| ENST00000357654.7:c.1638_1646delinsA | ENSP00000350283.3:p.Met546IlefsTer2 | |
| ENST00000412061.3:c.989_997delinsA | ||
| ENST00000461221.5:c.*1421_*1429delinsA | ENSP00000418548.1:n.*1421_*1429delinsA | |
| ENST00000468300.5:c.787+851_787+859delinsA | ENSP00000417148.1:n.787+851_787+859delins... | |
| ENST00000470026.5:c.1638_1646delinsA | ENSP00000419274.1:p.Met546IlefsTer2 | |
| ENST00000471181.6:c.1638_1646delinsA | ENSP00000418960.2:p.Met546IlefsTer2 | |
| ENST00000477152.5:c.1560_1568delinsA | ENSP00000419988.1:p.Met520IlefsTer2 | |
| ENST00000478531.5:c.784+851_784+859delinsA | ENSP00000420412.1:n.784+851_784+859delins... | |
| ENST00000484087.5:c.409+851_409+859delinsA | ENSP00000419481.1:n.409+851_409+859delins... | |
| ENST00000487825.5:c.412+851_412+859delinsA | ENSP00000418212.1:n.412+851_412+859delins... | |
| ENST00000491747.6:c.787+851_787+859delinsA | ENSP00000420705.2:n.787+851_787+859delins... | |
| ENST00000493795.5:c.1497_1505delinsA | ENSP00000418775.1:p.Met499IlefsTer2 | |
| ENST00000493919.5:c.646+851_646+859delinsA | ENSP00000418819.1:n.646+851_646+859delins... | |
| ENST00000586385.5:c.5-29942_5-29934delinsA | ENSP00000465818.1:n.5-29942_5-29934delins... | |
| ENST00000591534.5:c.-43-19372_-43-19364delinsA | ENSP00000467329.1:n.-43-19372_-43-19364de... | |
| ENST00000591849.5:c.-99+31378_-99+31386delinsA | ENSP00000465347.1:n.-99+31378_-99+31386de... | |
| ENST00000634433.1:c.1515_1523delinsA | ENSP00000489431.1:p.Met505IlefsTer2 | |
| NM_007294.3:c.1638_1646delinsA , LRG_292t1:c.1638_1646delinsA | NP_009225.1:p.Met546IlefsTer2 | |
| NM_007297.3:c.1497_1505delinsA | NP_009228.2:p.Met499IlefsTer2 | |
| NM_007298.3:c.787+851_787+859delinsA | NP_009229.2:n.787+851_787+859delinsA | |
| NM_007299.3:c.787+851_787+859delinsA | NP_009230.2:n.787+851_787+859delinsA | |
| NM_007300.3:c.1638_1646delinsA | NP_009231.2:p.Met546IlefsTer2 | |
| NR_027676.1:n.1774_1782delinsA | ||
| NM_007294.4:c.1638_1646delinsA MANE Select | NP_009225.1:p.Met546IlefsTer2 | |
| NM_007297.4:c.1497_1505delinsA | NP_009228.2:p.Met499IlefsTer2 | |
| NM_007299.4:c.787+851_787+859delinsA | NP_009230.2:n.787+851_787+859delinsA | |
| NM_007300.4:c.1638_1646delinsA | NP_009231.2:p.Met546IlefsTer2 | |
| NR_027676.2:n.1815_1823delinsA |