Linked Data
ClinVar Variation Id:
4761
ClinVar RCV Id:
RCV000005027
dbSNP Id:
rs587776608
MyVariant Identifiers:
chr2:g.145162441_145162442insCA (hg19)
chr2:g.144404874_144404875insCA (hg38)
PubMed:
PMID:11891681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144404874_144404875insCA , CM000664.2:g.144404874_144404875insCA | GRCh38 |
| NC_000002.11:g.145162441_145162442insCA , CM000664.1:g.145162441_145162442insCA | GRCh37 |
| NC_000002.10:g.144878911_144878912insCA | NCBI36 |
| NG_016431.1:g.120517_120518insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*402_*403insTG | ENSP00000508434.1:n.*402_*403insTG | |
| ENST00000440875.6:c.-225_-224insTG | ENSP00000475553.3:n.-225_-224insTG | |
| ENST00000627532.3:c.553_554insTG MANE Select | ENSP00000487174.1:p.Arg185LeufsTer28 | |
| ENST00000636026.2:c.553_554insTG | ENSP00000490776.1:p.Arg185LeufsTer28 | |
| ENST00000636179.1:n.522_523insTG | ||
| ENST00000636413.1:c.217_218insTG | ENSP00000490508.1:p.Arg73LeufsTer28 | |
| ENST00000636471.1:c.553_554insTG | ENSP00000490317.1:p.Arg185LeufsTer28 | |
| ENST00000636732.2:c.*270_*271insTG | ENSP00000490175.1:n.*270_*271insTG | |
| ENST00000636820.1:n.653_654insTG | ||
| ENST00000637045.1:c.217_218insTG | ENSP00000490141.1:p.Arg73LeufsTer28 | |
| ENST00000637267.2:c.553_554insTG | ENSP00000490293.2:p.Arg185LeufsTer28 | |
| ENST00000637304.1:c.217_218insTG | ENSP00000490872.1:p.Arg73LeufsTer28 | |
| ENST00000638007.1:c.217_218insTG | ENSP00000490723.1:p.Arg73LeufsTer28 | |
| ENST00000638087.1:c.217_218insTG | ENSP00000490673.1:p.Arg73LeufsTer28 | |
| ENST00000638128.1:c.-225_-224insTG | ENSP00000490934.1:n.-225_-224insTG | |
| ENST00000675069.1:c.-133-6025_-133-6024insTG | ENSP00000502467.1:n.-133-6025_-133-6024insTG | |
| ENST00000303660.8:c.550_551insTG | ENSP00000302501.4:p.Arg184LeufsTer28 | |
| ENST00000392861.6:c.637_638insTG | ENSP00000376601.3:p.Arg213LeufsTer28 | |
| ENST00000409487.7:c.553_554insTG | ENSP00000386854.2:p.Arg185LeufsTer28 | |
| ENST00000419938.5:c.332-745_332-744insTG | ENSP00000394777.2:n.332-745_332-744insTG | |
| ENST00000427902.5:c.640_641insTG | ENSP00000395496.2:p.Arg214LeufsTer28 | |
| ENST00000431672.4:c.481_482insTG | ENSP00000475267.2:p.Arg161LeufsTer? | |
| ENST00000440875.5:c.538_539insTG | ENSP00000475553.2:p.Arg180LeufsTer28 | |
| ENST00000497268.1:n.499_500insTG | ||
| ENST00000539609.7:c.481_482insTG | ENSP00000443792.2:p.Arg161LeufsTer28 | |
| ENST00000558170.6:c.553_554insTG | ENSP00000454157.1:p.Arg185LeufsTer28 | |
| ENST00000627532.2:c.553_554insTG | ENSP00000487174.1:p.Arg185LeufsTer28 | |
| ENST00000627856.2:n.513_514insTG | ||
| NM_001171653.1:c.481_482insTG | NP_001165124.1:p.Arg161LeufsTer28 | |
| NM_014795.3:c.553_554insTG | NP_055610.1:p.Arg185LeufsTer28 | |
| XM_006712881.2:c.553_554insTG | XP_006712944.1:p.Arg185LeufsTer28 | |
| XM_006712882.2:c.553_554insTG | XP_006712945.1:p.Arg185LeufsTer28 | |
| XM_011512231.1:c.544_545insTG | XP_011510533.1:p.Arg182LeufsTer28 | |
| XM_011512232.1:c.532_533insTG | XP_011510534.1:p.Arg178LeufsTer28 | |
| NM_014795.4:c.553_554insTG MANE Select | NP_055610.1:p.Arg185LeufsTer28 | |
| NM_001171653.2:c.481_482insTG | NP_001165124.1:p.Arg161LeufsTer28 |