Linked Data
ClinVar Variation Id:
548154
ClinVar RCV Id:
RCV000660894
dbSNP Id:
rs1555591372
MyVariant Identifiers:
chr17:g.41245862_41245863insCTTTC (hg19)
chr17:g.43093845_43093846insCTTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43093845_43093846insCTTTC , CM000679.2:g.43093845_43093846insCTTTC | GRCh38 |
| NC_000017.10:g.41245862_41245863insCTTTC , CM000679.1:g.41245862_41245863insCTTTC | GRCh37 |
| NC_000017.9:g.38499388_38499389insCTTTC | NCBI36 |
| NG_005905.2:g.124138_124139insGAAAG , LRG_292:g.124138_124139insGAAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1749_1750insGAAAG | ||
| ENST00000461574.2:c.1685_1686insGAAAG | ENSP00000417241.2:p.Ile562MetfsTer12 | |
| ENST00000470026.6:c.1685_1686insGAAAG | ENSP00000419274.2:p.Ile562MetfsTer12 | |
| ENST00000473961.6:c.1559_1560insGAAAG | ENSP00000420201.2:p.Ile520MetfsTer12 | |
| ENST00000476777.6:c.1682_1683insGAAAG | ENSP00000417554.2:p.Ile561MetfsTer12 | |
| ENST00000477152.6:c.1607_1608insGAAAG | ENSP00000419988.2:p.Ile536MetfsTer12 | |
| ENST00000478531.6:c.784+898_784+899insGAAAG | ENSP00000420412.2:n.784+898_784+899insGAAAG | |
| ENST00000489037.2:c.1607_1608insGAAAG | ENSP00000420781.2:p.Ile536MetfsTer12 | |
| ENST00000493919.6:c.646+898_646+899insGAAAG | ENSP00000418819.2:n.646+898_646+899insGAAAG | |
| ENST00000494123.6:c.1685_1686insGAAAG | ENSP00000419103.2:p.Ile562MetfsTer12 | |
| ENST00000497488.2:c.797_798insGAAAG | ENSP00000418986.2:p.Ile266MetfsTer12 | |
| ENST00000618469.2:c.1685_1686insGAAAG | ENSP00000478114.2:p.Ile562MetfsTer12 | |
| ENST00000634433.2:c.1562_1563insGAAAG | ENSP00000489431.2:p.Ile521MetfsTer12 | |
| ENST00000644379.2:c.1685_1686insGAAAG | ENSP00000496570.2:p.Ile562MetfsTer12 | |
| ENST00000644555.2:c.646+898_646+899insGAAAG | ENSP00000494614.2:n.646+898_646+899insGAAAG | |
| ENST00000652672.2:c.1544_1545insGAAAG | ENSP00000498906.2:p.Ile515MetfsTer12 | |
| ENST00000484087.6:c.664+898_664+899insGAAAG | ENSP00000419481.2:n.664+898_664+899insGAAAG | |
| ENST00000700182.1:c.706+898_706+899insGAAAG | ENSP00000514849.1:n.706+898_706+899insGAAAG | |
| ENST00000357654.9:c.1685_1686insGAAAG MANE Select | ENSP00000350283.3:p.Ile562MetfsTer12 | |
| ENST00000471181.7:c.1685_1686insGAAAG | ENSP00000418960.2:p.Ile562MetfsTer12 | |
| ENST00000652672.1:c.1544_1545insGAAAG | ENSP00000498906.1:p.Ile515MetfsTer12 | |
| ENST00000352993.7:c.670+2000_670+2001insGAAAG | ENSP00000312236.5:n.670+2000_670+2001insGAAAG | |
| ENST00000354071.7:c.1685_1686insGAAAG | ENSP00000326002.7:p.Ile562MetfsTer12 | |
| ENST00000357654.7:c.1685_1686insGAAAG | ENSP00000350283.3:p.Ile562MetfsTer12 | |
| ENST00000412061.3:c.1036_1037insGAAAG | ||
| ENST00000461221.5:c.*1468_*1469insGAAAG | ENSP00000418548.1:n.*1468_*1469insGAAAG | |
| ENST00000468300.5:c.787+898_787+899insGAAAG | ENSP00000417148.1:n.787+898_787+899insGAAAG | |
| ENST00000470026.5:c.1685_1686insGAAAG | ENSP00000419274.1:p.Ile562MetfsTer12 | |
| ENST00000471181.6:c.1685_1686insGAAAG | ENSP00000418960.2:p.Ile562MetfsTer12 | |
| ENST00000477152.5:c.1607_1608insGAAAG | ENSP00000419988.1:p.Ile536MetfsTer12 | |
| ENST00000478531.5:c.784+898_784+899insGAAAG | ENSP00000420412.1:n.784+898_784+899insGAAAG | |
| ENST00000484087.5:c.409+898_409+899insGAAAG | ENSP00000419481.1:n.409+898_409+899insGAAAG | |
| ENST00000487825.5:c.412+898_412+899insGAAAG | ENSP00000418212.1:n.412+898_412+899insGAAAG | |
| ENST00000491747.6:c.787+898_787+899insGAAAG | ENSP00000420705.2:n.787+898_787+899insGAAAG | |
| ENST00000493795.5:c.1544_1545insGAAAG | ENSP00000418775.1:p.Ile515MetfsTer12 | |
| ENST00000493919.5:c.646+898_646+899insGAAAG | ENSP00000418819.1:n.646+898_646+899insGAAAG | |
| ENST00000586385.5:c.5-29895_5-29894insGAAAG | ENSP00000465818.1:n.5-29895_5-29894insGAAAG | |
| ENST00000591534.5:c.-43-19325_-43-19324insGAAAG | ENSP00000467329.1:n.-43-19325_-43-19324insGAAAG | |
| ENST00000591849.5:c.-99+31425_-99+31426insGAAAG | ENSP00000465347.1:n.-99+31425_-99+31426insGAAAG | |
| ENST00000634433.1:c.1562_1563insGAAAG | ENSP00000489431.1:p.Ile521MetfsTer12 | |
| NM_007294.3:c.1685_1686insGAAAG , LRG_292t1:c.1685_1686insGAAAG | NP_009225.1:p.Ile562MetfsTer12 | |
| NM_007297.3:c.1544_1545insGAAAG | NP_009228.2:p.Ile515MetfsTer12 | |
| NM_007298.3:c.787+898_787+899insGAAAG | NP_009229.2:n.787+898_787+899insGAAAG | |
| NM_007299.3:c.787+898_787+899insGAAAG | NP_009230.2:n.787+898_787+899insGAAAG | |
| NM_007300.3:c.1685_1686insGAAAG | NP_009231.2:p.Ile562MetfsTer12 | |
| NR_027676.1:n.1821_1822insGAAAG | ||
| NM_007294.4:c.1685_1686insGAAAG MANE Select | NP_009225.1:p.Ile562MetfsTer12 | |
| NM_007297.4:c.1544_1545insGAAAG | NP_009228.2:p.Ile515MetfsTer12 | |
| NM_007299.4:c.787+898_787+899insGAAAG | NP_009230.2:n.787+898_787+899insGAAAG | |
| NM_007300.4:c.1685_1686insGAAAG | NP_009231.2:p.Ile562MetfsTer12 | |
| NR_027676.2:n.1862_1863insGAAAG |