Linked Data
ClinVar Variation Id:
163374
ClinVar RCV Id:
RCV000150623
dbSNP Id:
rs727503019
MyVariant Identifiers:
chr7:g.55249010_55249012delinsTGGG (hg19)
chr7:g.55181317_55181319delinsTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181317_55181319delinsTGGG , CM000669.2:g.55181317_55181319delinsTGGG | GRCh38 |
| NC_000007.13:g.55249010_55249012delinsTGGG , CM000669.1:g.55249010_55249012delinsTGGG | GRCh37 |
| NC_000007.12:g.55216504_55216506delinsTGGG | NCBI36 |
| NG_007726.3:g.167286_167288delinsTGGG , LRG_304:g.167286_167288delinsTGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2149_2151delinsTGGG (EGFR) | ENSP00000413354.2:p.Asp717TrpfsTer? | |
| ENST00000700145.1:c.657_659delinsTGGG (EGFR) | ||
| ENST00000275493.7:c.2308_2310delinsTGGG (EGFR) MANE Select | ENSP00000275493.2:p.Asp770TrpfsTer? | |
| ENST00000275493.6:c.2308_2310delinsTGGG (EGFR) | ENSP00000275493.2:p.Asp770TrpfsTer? | |
| ENST00000442591.5:c.*28+8389_*28+8391delinsTGGG (EGFR) | ENSP00000410031.1:n.*28+8389_*28+8391deli... | |
| ENST00000454757.6:c.2173_2175delinsTGGG (EGFR) | ENSP00000395243.3:p.Asp725TrpfsTer? | |
| ENST00000455089.5:c.2173_2175delinsTGGG (EGFR) | ENSP00000415559.1:p.Asp725TrpfsTer? | |
| NM_005228.3:c.2308_2310delinsTGGG , LRG_304t1:c.2308_2310delinsTGGG (EGFR) | NP_005219.2:p.Asp770TrpfsTer? | |
| NR_047551.1:n.1252_1254delinsCCCA (EGFR-AS1) | ||
| NM_001346897.1:c.2173_2175delinsTGGG (EGFR) | NP_001333826.1:p.Asp725TrpfsTer? | |
| NM_001346898.1:c.2308_2310delinsTGGG (EGFR) | NP_001333827.1:p.Asp770TrpfsTer? | |
| NM_001346899.1:c.2173_2175delinsTGGG (EGFR) | NP_001333828.1:p.Asp725TrpfsTer? | |
| NM_001346900.1:c.2149_2151delinsTGGG (EGFR) | NP_001333829.1:p.Asp717TrpfsTer? | |
| NM_001346941.1:c.1507_1509delinsTGGG (EGFR) | NP_001333870.1:p.Asp503TrpfsTer? | |
| NM_005228.4:c.2308_2310delinsTGGG (EGFR) | NP_005219.2:p.Asp770TrpfsTer? | |
| NM_005228.5:c.2308_2310delinsTGGG (EGFR) MANE Select | NP_005219.2:p.Asp770TrpfsTer? | |
| NM_001346897.2:c.2173_2175delinsTGGG (EGFR) | NP_001333826.1:p.Asp725TrpfsTer? | |
| NM_001346898.2:c.2308_2310delinsTGGG (EGFR) | NP_001333827.1:p.Asp770TrpfsTer? | |
| NM_001346900.2:c.2149_2151delinsTGGG (EGFR) | NP_001333829.1:p.Asp717TrpfsTer? | |
| NM_001346941.2:c.1507_1509delinsTGGG (EGFR) | NP_001333870.1:p.Asp503TrpfsTer? | |
| NM_001346899.2:c.2173_2175delinsTGGG (EGFR) | NP_001333828.1:p.Asp725TrpfsTer? |