Linked Data
ClinVar Variation Id:
231505
dbSNP Id:
rs876659196
MyVariant Identifiers:
chr17:g.41245778_41245780delinsG (hg19)
chr17:g.43093761_43093763delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093761_43093763delinsG , CM000679.2:g.43093761_43093763delinsG | GRCh38 |
| NC_000017.10:g.41245778_41245780delinsG , CM000679.1:g.41245778_41245780delinsG | GRCh37 |
| NC_000017.9:g.38499304_38499306delinsG | NCBI36 |
| NG_005905.2:g.124221_124223delinsC , LRG_292:g.124221_124223delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.1832_1834delinsC | ||
| ENST00000461574.2:c.1768_1770delinsC | ENSP00000417241.2:p.Ser590HisfsTer17 | |
| ENST00000470026.6:c.1768_1770delinsC | ENSP00000419274.2:p.Ser590HisfsTer17 | |
| ENST00000473961.6:c.1642_1644delinsC | ENSP00000420201.2:p.Ser548HisfsTer17 | |
| ENST00000476777.6:c.1765_1767delinsC | ENSP00000417554.2:p.Ser589HisfsTer17 | |
| ENST00000477152.6:c.1690_1692delinsC | ENSP00000419988.2:p.Ser564HisfsTer17 | |
| ENST00000478531.6:c.784+981_784+983delinsC | ENSP00000420412.2:n.784+981_784+983delins... | |
| ENST00000489037.2:c.1690_1692delinsC | ENSP00000420781.2:p.Ser564HisfsTer17 | |
| ENST00000493919.6:c.646+981_646+983delinsC | ENSP00000418819.2:n.646+981_646+983delins... | |
| ENST00000494123.6:c.1768_1770delinsC | ENSP00000419103.2:p.Ser590HisfsTer17 | |
| ENST00000497488.2:c.880_882delinsC | ENSP00000418986.2:p.Ser294HisfsTer17 | |
| ENST00000618469.2:c.1768_1770delinsC | ENSP00000478114.2:p.Ser590HisfsTer17 | |
| ENST00000634433.2:c.1645_1647delinsC | ENSP00000489431.2:p.Ser549HisfsTer17 | |
| ENST00000644379.2:c.1768_1770delinsC | ENSP00000496570.2:p.Ser590HisfsTer17 | |
| ENST00000644555.2:c.646+981_646+983delinsC | ENSP00000494614.2:n.646+981_646+983delins... | |
| ENST00000652672.2:c.1627_1629delinsC | ENSP00000498906.2:p.Ser543HisfsTer17 | |
| ENST00000484087.6:c.664+981_664+983delinsC | ENSP00000419481.2:n.664+981_664+983delins... | |
| ENST00000700182.1:c.706+981_706+983delinsC | ENSP00000514849.1:n.706+981_706+983delins... | |
| ENST00000357654.9:c.1768_1770delinsC MANE Select | ENSP00000350283.3:p.Ser590HisfsTer17 | |
| ENST00000471181.7:c.1768_1770delinsC | ENSP00000418960.2:p.Ser590HisfsTer17 | |
| ENST00000652672.1:c.1627_1629delinsC | ENSP00000498906.1:p.Ser543HisfsTer17 | |
| ENST00000352993.7:c.670+2083_670+2085delinsC | ENSP00000312236.5:n.670+2083_670+2085deli... | |
| ENST00000354071.7:c.1768_1770delinsC | ENSP00000326002.7:p.Ser590HisfsTer17 | |
| ENST00000357654.7:c.1768_1770delinsC | ENSP00000350283.3:p.Ser590HisfsTer17 | |
| ENST00000412061.3:c.1119_1121delinsC | ||
| ENST00000461221.5:c.*1551_*1553delinsC | ENSP00000418548.1:n.*1551_*1553delinsC | |
| ENST00000468300.5:c.787+981_787+983delinsC | ENSP00000417148.1:n.787+981_787+983delins... | |
| ENST00000470026.5:c.1768_1770delinsC | ENSP00000419274.1:p.Ser590HisfsTer17 | |
| ENST00000471181.6:c.1768_1770delinsC | ENSP00000418960.2:p.Ser590HisfsTer17 | |
| ENST00000477152.5:c.1690_1692delinsC | ENSP00000419988.1:p.Ser564HisfsTer17 | |
| ENST00000478531.5:c.784+981_784+983delinsC | ENSP00000420412.1:n.784+981_784+983delins... | |
| ENST00000484087.5:c.409+981_409+983delinsC | ENSP00000419481.1:n.409+981_409+983delins... | |
| ENST00000487825.5:c.412+981_412+983delinsC | ENSP00000418212.1:n.412+981_412+983delins... | |
| ENST00000491747.6:c.787+981_787+983delinsC | ENSP00000420705.2:n.787+981_787+983delins... | |
| ENST00000493795.5:c.1627_1629delinsC | ENSP00000418775.1:p.Ser543HisfsTer17 | |
| ENST00000493919.5:c.646+981_646+983delinsC | ENSP00000418819.1:n.646+981_646+983delins... | |
| ENST00000586385.5:c.5-29812_5-29810delinsC | ENSP00000465818.1:n.5-29812_5-29810delins... | |
| ENST00000591534.5:c.-43-19242_-43-19240delinsC | ENSP00000467329.1:n.-43-19242_-43-19240de... | |
| ENST00000591849.5:c.-99+31508_-99+31510delinsC | ENSP00000465347.1:n.-99+31508_-99+31510de... | |
| ENST00000634433.1:c.1645_1647delinsC | ENSP00000489431.1:p.Ser549HisfsTer17 | |
| NM_007294.3:c.1768_1770delinsC , LRG_292t1:c.1768_1770delinsC | NP_009225.1:p.Ser590HisfsTer17 | |
| NM_007297.3:c.1627_1629delinsC | NP_009228.2:p.Ser543HisfsTer17 | |
| NM_007298.3:c.787+981_787+983delinsC | NP_009229.2:n.787+981_787+983delinsC | |
| NM_007299.3:c.787+981_787+983delinsC | NP_009230.2:n.787+981_787+983delinsC | |
| NM_007300.3:c.1768_1770delinsC | NP_009231.2:p.Ser590HisfsTer17 | |
| NR_027676.1:n.1904_1906delinsC | ||
| NM_007294.4:c.1768_1770delinsC MANE Select | NP_009225.1:p.Ser590HisfsTer17 | |
| NM_007297.4:c.1627_1629delinsC | NP_009228.2:p.Ser543HisfsTer17 | |
| NM_007299.4:c.787+981_787+983delinsC | NP_009230.2:n.787+981_787+983delinsC | |
| NM_007300.4:c.1768_1770delinsC | NP_009231.2:p.Ser590HisfsTer17 | |
| NR_027676.2:n.1945_1947delinsC |