Linked Data
ClinVar Variation Id:
120223
ClinVar RCV Id:
RCV000106320
dbSNP Id:
rs587777239
PubMed:
PMID:23335589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.533849_533869dup , CM000673.2:g.533849_533869dup | GRCh38 |
| NC_000011.9:g.533849_533869dup , CM000673.1:g.533849_533869dup | GRCh37 |
| NC_000011.8:g.523849_523869dup | NCBI36 |
| NG_007666.1:g.6682_6702dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397594.7:c.187_207dup (HRAS) | ENSP00000380722.3:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000417302.7:c.187_207dup (HRAS) MANE Plus Clinical | ENSP00000388246.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000417302.6:c.187_207dup (HRAS) | ENSP00000388246.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000462734.2:c.187_207dup (HRAS) | ENSP00000507303.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000311189.8:c.187_207dup (HRAS) MANE Select | ENSP00000309845.7:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000311189.7:c.187_207dup (HRAS) | ENSP00000309845.7:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000397594.5:c.187_207dup (HRAS) | ENSP00000380722.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000397596.6:c.187_207dup (HRAS) | ENSP00000380723.2:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000417302.5:c.187_207dup (HRAS) | ENSP00000388246.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000451590.5:c.187_207dup (HRAS) | ENSP00000407586.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| ENST00000468682.2:n.675_695dup (HRAS) | ||
| ENST00000479482.1:n.108_128dup (HRAS) | ||
| ENST00000493230.5:c.187_207dup (HRAS) | ENSP00000434023.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_001130442.1:c.187_207dup (HRAS) | NP_001123914.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_005343.2:c.187_207dup (HRAS) | NP_005334.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_176795.3:c.187_207dup (HRAS) | NP_789765.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| XM_011519875.1:c.-424-4749_-424-4729dup (LRRC56) | XP_011518177.1:n.-424-4749_-424-4729dup | |
| XM_011519877.1:c.-162+5512_-162+5532dup (LRRC56) | XP_011518179.1:n.-162+5512_-162+5532dup | |
| XR_242795.1:n.386_406dup (HRAS) | ||
| NM_001130442.2:c.187_207dup (HRAS) | NP_001123914.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_001318054.1:c.-133_-113dup (HRAS) | NP_001304983.1:n.-133_-113dup | |
| NM_005343.3:c.187_207dup (HRAS) | NP_005334.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_176795.4:c.187_207dup (HRAS) | NP_789765.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| XM_011519875.2:c.-424-4749_-424-4729dup (LRRC56) | XP_011518177.1:n.-424-4749_-424-4729dup | |
| XM_011519877.2:c.-162+5512_-162+5532dup (LRRC56) | XP_011518179.1:n.-162+5512_-162+5532dup | |
| XM_017017167.1:c.-499-4674_-499-4654dup (LRRC56) | XP_016872656.1:n.-499-4674_-499-4654dup | |
| XM_017017168.1:c.-499-4674_-499-4654dup (LRRC56) | XP_016872657.1:n.-499-4674_-499-4654dup | |
| NM_005343.4:c.187_207dup (HRAS) MANE Select | NP_005334.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_001318054.2:c.-133_-113dup (HRAS) | NP_001304983.1:n.-133_-113dup | |
| NM_001130442.3:c.187_207dup (HRAS) | NP_001123914.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp | |
| NM_176795.5:c.187_207dup (HRAS) MANE Plus Clinical | NP_789765.1:p.Asp69_Gln70insGluTyrSerAlaMetArgAsp |