Linked Data
ClinVar Variation Id:
374547
ClinVar RCV Id:
RCV000415947
dbSNP Id:
rs1057519420
MyVariant Identifiers:
chr5:g.118877657_118877661delinsAAA (hg19)
chr5:g.119541962_119541966delinsAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119541962_119541966delinsAAA , CM000667.2:g.119541962_119541966delinsAAA | GRCh38 |
| NC_000005.9:g.118877657_118877661delinsAAA , CM000667.1:g.118877657_118877661delinsAAA | GRCh37 |
| NC_000005.8:g.118905556_118905560delinsAAA | NCBI36 |
| NG_008182.1:g.94510_94514delinsAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.2110_2114delinsAAA | ENSP00000426272.2:p.Gln704LysfsTer4 | |
| ENST00000518349.6:c.1423_1427delinsAAA | ENSP00000507185.1:p.Gln475LysfsTer4 | |
| ENST00000682445.1:c.*2060_*2064delinsAAA | ENSP00000508061.1:n.*2060_*2064delinsAAA | |
| ENST00000682531.1:n.4071_4075delinsAAA | ||
| ENST00000682626.1:c.*1685_*1689delinsAAA | ENSP00000507857.1:n.*1685_*1689delinsAAA | |
| ENST00000682996.1:c.2107_2111delinsAAA | ENSP00000507792.1:p.Gln703LysfsTer4 | |
| ENST00000683265.1:n.3965_3969delinsAAA | ||
| ENST00000683335.1:n.3581_3585delinsAAA | ||
| ENST00000683371.1:c.*2309_*2313delinsAAA | ENSP00000508376.1:n.*2309_*2313delinsAAA | |
| ENST00000683372.1:n.4189_4193delinsAAA | ||
| ENST00000683390.1:n.8887_8891delinsAAA | ||
| ENST00000683476.1:n.1021_1025delinsAAA | ||
| ENST00000683549.1:n.3793_3797delinsAAA | ||
| ENST00000683936.1:c.*3757_*3761delinsAAA | ENSP00000507721.1:n.*3757_*3761delinsAAA | |
| ENST00000683974.1:n.3908_3912delinsAAA | ||
| ENST00000683996.1:c.*1389_*1393delinsAAA | ENSP00000507060.1:n.*1389_*1393delinsAAA | |
| ENST00000684131.1:n.3711_3715delinsAAA | ||
| ENST00000684160.1:c.*1869_*1873delinsAAA | ENSP00000507821.1:n.*1869_*1873delinsAAA | |
| ENST00000684214.1:c.*174_*178delinsAAA | ENSP00000508071.1:n.*174_*178delinsAAA | |
| ENST00000414835.7:c.2254_2258delinsAAA | ENSP00000411960.3:p.Gln752LysfsTer4 | |
| ENST00000510025.7:c.2179_2183delinsAAA MANE Select | ENSP00000424940.3:p.Gln727LysfsTer4 | |
| ENST00000643250.1:c.*2051_*2055delinsAAA | ENSP00000494737.1:n.*2051_*2055delinsAAA | |
| ENST00000643897.1:c.113+5412_113+5416delinsAAA | ||
| ENST00000644146.1:c.*3450_*3454delinsAAA | ENSP00000494808.1:n.*3450_*3454delinsAAA | |
| ENST00000645099.1:c.1738_1742delinsAAA | ENSP00000496091.1:p.Gln580LysfsTer4 | |
| ENST00000645702.1:c.*1582_*1586delinsAAA | ENSP00000496432.1:n.*1582_*1586delinsAAA | |
| ENST00000645832.1:c.*2064_*2068delinsAAA | ENSP00000494316.1:n.*2064_*2068delinsAAA | |
| ENST00000646058.1:c.2121+5412_2121+5416delinsAAA | ENSP00000493579.1:n.2121+5412_2121+5416de... | |
| ENST00000646355.1:c.*2185_*2189delinsAAA | ENSP00000493801.1:n.*2185_*2189delinsAAA | |
| ENST00000646554.1:c.*2157_*2161delinsAAA | ENSP00000494542.1:n.*2157_*2161delinsAAA | |
| ENST00000647335.1:c.*2146_*2150delinsAAA | ENSP00000495180.1:n.*2146_*2150delinsAAA | |
| ENST00000647342.1:c.*2110_*2114delinsAAA | ENSP00000494992.1:n.*2110_*2114delinsAAA | |
| ENST00000256216.10:c.2179_2183delinsAAA | ENSP00000256216.6:p.Gln727LysfsTer4 | |
| ENST00000414835.6:c.1759_1763delinsAAA | ENSP00000411960.2:p.Gln587LysfsTer4 | |
| ENST00000442060.7:c.*734_*738delinsAAA | ENSP00000390208.3:n.*734_*738delinsAAA | |
| ENST00000503310.1:n.839_843delinsAAA | ||
| ENST00000504811.5:c.2254_2258delinsAAA | ENSP00000420914.1:p.Gln752LysfsTer4 | |
| ENST00000509514.5:c.1393_1397delinsAAA | ENSP00000426272.1:p.Gln465LysfsTer4 | |
| ENST00000509606.1:n.474_478delinsAAA | ||
| ENST00000509951.5:n.367_371delinsAAA | ||
| ENST00000510025.5:c.2107_2111delinsAAA | ENSP00000424940.1:p.Gln703LysfsTer4 | |
| ENST00000513628.5:c.1768_1772delinsAAA | ENSP00000425993.1:p.Gln590LysfsTer4 | |
| ENST00000515235.6:n.3874+5412_3874+5416delinsAAA | ||
| ENST00000515320.5:c.2125_2129delinsAAA | ENSP00000424613.1:p.Gln709LysfsTer4 | |
| ENST00000522415.5:n.846_850delinsAAA | ||
| NM_000414.3:c.2179_2183delinsAAA | NP_000405.1:p.Gln727LysfsTer4 | |
| NM_001199291.2:c.2254_2258delinsAAA | NP_001186220.1:p.Gln752LysfsTer4 | |
| NM_001199292.1:c.2125_2129delinsAAA | NP_001186221.1:p.Gln709LysfsTer4 | |
| NM_001292027.1:c.2107_2111delinsAAA | NP_001278956.1:p.Gln703LysfsTer4 | |
| NM_001292028.1:c.1759_1763delinsAAA | NP_001278957.1:p.Gln587LysfsTer4 | |
| NM_000414.4:c.2179_2183delinsAAA MANE Select | NP_000405.1:p.Gln727LysfsTer4 | |
| NM_001199291.3:c.2254_2258delinsAAA | NP_001186220.1:p.Gln752LysfsTer4 | |
| NM_001199292.2:c.2125_2129delinsAAA | NP_001186221.1:p.Gln709LysfsTer4 | |
| NM_001292027.2:c.2107_2111delinsAAA | NP_001278956.1:p.Gln703LysfsTer4 | |
| NM_001292028.2:c.1759_1763delinsAAA | NP_001278957.1:p.Gln587LysfsTer4 | |
| NM_001374497.1:c.2170_2174delinsAAA | NP_001361426.1:p.Gln724LysfsTer4 | |
| NM_001374498.1:c.2107_2111delinsAAA | NP_001361427.1:p.Gln703LysfsTer4 | |
| NM_001374499.1:c.1852_1856delinsAAA | NP_001361428.1:p.Gln618LysfsTer4 | |
| NM_001374500.1:c.1738_1742delinsAAA | NP_001361429.1:p.Gln580LysfsTer4 | |
| NM_001374501.1:c.1768_1772delinsAAA | NP_001361430.1:p.Gln590LysfsTer4 | |
| NM_001374502.1:c.1768_1772delinsAAA | NP_001361431.1:p.Gln590LysfsTer4 | |
| NM_001374503.1:c.1768_1772delinsAAA | NP_001361432.1:p.Gln590LysfsTer4 | |
| NR_164653.1:n.2276_2280delinsAAA | ||
| NR_164654.1:n.2544_2548delinsAAA |