Linked Data
ClinVar Variation Id:
45253
dbSNP Id:
rs397517109
MyVariant Identifiers:
chr7:g.55249005_55249013dupGCGTGGACA (hg19)
chr7:g.55249013_55249014insGCGTGGACA (hg19)
chr7:g.55181312_55181320dupGCGTGGACA (hg38)
chr7:g.55181320_55181321insGCGTGGACA (hg38)
CIViC:
CA135844
PubMed:
PMID:16187797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181312_55181320dup , CM000669.2:g.55181312_55181320dup | GRCh38 |
| NC_000007.13:g.55249005_55249013dup , CM000669.1:g.55249005_55249013dup | GRCh37 |
| NC_000007.12:g.55216499_55216507dup | NCBI36 |
| NG_007726.3:g.167281_167289dup , LRG_304:g.167281_167289dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2144_2152dup (EGFR) | ENSP00000413354.2:p.Asp717_Asn718insSerVa... | |
| ENST00000700145.1:c.652_660dup (EGFR) | ||
| ENST00000275493.7:c.2303_2311dup (EGFR) MANE Select | ENSP00000275493.2:p.Asp770_Asn771insSerVa... | |
| ENST00000275493.6:c.2303_2311dup (EGFR) | ENSP00000275493.2:p.Asp770_Asn771insSerVa... | |
| ENST00000442591.5:c.*28+8384_*28+8392dup (EGFR) | ENSP00000410031.1:n.*28+8384_*28+8392dup | |
| ENST00000454757.6:c.2168_2176dup (EGFR) | ENSP00000395243.3:p.Asp725_Asn726insSerVa... | |
| ENST00000455089.5:c.2168_2176dup (EGFR) | ENSP00000415559.1:p.Asp725_Asn726insSerVa... | |
| NM_005228.3:c.2303_2311dup , LRG_304t1:c.2303_2311dup (EGFR) | NP_005219.2:p.Asp770_Asn771insSerValAsp | |
| NR_047551.1:n.1253_1261dup (EGFR-AS1) | ||
| NM_001346897.1:c.2168_2176dup (EGFR) | NP_001333826.1:p.Asp725_Asn726insSerValAs... | |
| NM_001346898.1:c.2303_2311dup (EGFR) | NP_001333827.1:p.Asp770_Asn771insSerValAs... | |
| NM_001346899.1:c.2168_2176dup (EGFR) | NP_001333828.1:p.Asp725_Asn726insSerValAs... | |
| NM_001346900.1:c.2144_2152dup (EGFR) | NP_001333829.1:p.Asp717_Asn718insSerValAs... | |
| NM_001346941.1:c.1502_1510dup (EGFR) | NP_001333870.1:p.Asp503_Asn504insSerValAs... | |
| NM_005228.4:c.2303_2311dup (EGFR) | NP_005219.2:p.Asp770_Asn771insSerValAsp | |
| NM_005228.5:c.2303_2311dup (EGFR) MANE Select | NP_005219.2:p.Asp770_Asn771insSerValAsp | |
| NM_001346897.2:c.2168_2176dup (EGFR) | NP_001333826.1:p.Asp725_Asn726insSerValAs... | |
| NM_001346898.2:c.2303_2311dup (EGFR) | NP_001333827.1:p.Asp770_Asn771insSerValAs... | |
| NM_001346900.2:c.2144_2152dup (EGFR) | NP_001333829.1:p.Asp717_Asn718insSerValAs... | |
| NM_001346941.2:c.1502_1510dup (EGFR) | NP_001333870.1:p.Asp503_Asn504insSerValAs... | |
| NM_001346899.2:c.2168_2176dup (EGFR) | NP_001333828.1:p.Asp725_Asn726insSerValAs... |