Linked Data
ClinVar Variation Id:
177678
ClinVar RCV Id:
RCV000154275
dbSNP Id:
rs727504263
gnomAD v3:
7-55181305-A-ATGGCCAGCG
gnomAD v4:
7-55181305-A-ATGGCCAGCG
MyVariant Identifiers:
chr7:g.55249002_55249010dupCCAGCGTGG (hg19)
chr7:g.55249010_55249011insCCAGCGTGG (hg19)
chr7:g.55181309_55181317dupCCAGCGTGG (hg38)
chr7:g.55181317_55181318insCCAGCGTGG (hg38)
PubMed:
PMID:16187797
CIViC:
CA180588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181309_55181317dup , CM000669.2:g.55181309_55181317dup | GRCh38 |
| NC_000007.13:g.55249002_55249010dup , CM000669.1:g.55249002_55249010dup | GRCh37 |
| NC_000007.12:g.55216496_55216504dup | NCBI36 |
| NG_007726.3:g.167278_167286dup , LRG_304:g.167278_167286dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2141_2149dup (EGFR) | ENSP00000413354.2:p.Val716_Asp717insAlaSe... | |
| ENST00000700145.1:c.649_657dup (EGFR) | ||
| ENST00000275493.7:c.2300_2308dup (EGFR) MANE Select | ENSP00000275493.2:p.Val769_Asp770insAlaSe... | |
| ENST00000275493.6:c.2300_2308dup (EGFR) | ENSP00000275493.2:p.Val769_Asp770insAlaSe... | |
| ENST00000442591.5:c.*28+8381_*28+8389dup (EGFR) | ENSP00000410031.1:n.*28+8381_*28+8389dup | |
| ENST00000454757.6:c.2165_2173dup (EGFR) | ENSP00000395243.3:p.Val724_Asp725insAlaSe... | |
| ENST00000455089.5:c.2165_2173dup (EGFR) | ENSP00000415559.1:p.Val724_Asp725insAlaSe... | |
| NM_005228.3:c.2300_2308dup , LRG_304t1:c.2300_2308dup (EGFR) | NP_005219.2:p.Val769_Asp770insAlaSerVal | |
| NR_047551.1:n.1257_1265dup (EGFR-AS1) | ||
| NM_001346897.1:c.2165_2173dup (EGFR) | NP_001333826.1:p.Val724_Asp725insAlaSerVa... | |
| NM_001346898.1:c.2300_2308dup (EGFR) | NP_001333827.1:p.Val769_Asp770insAlaSerVa... | |
| NM_001346899.1:c.2165_2173dup (EGFR) | NP_001333828.1:p.Val724_Asp725insAlaSerVa... | |
| NM_001346900.1:c.2141_2149dup (EGFR) | NP_001333829.1:p.Val716_Asp717insAlaSerVa... | |
| NM_001346941.1:c.1499_1507dup (EGFR) | NP_001333870.1:p.Val502_Asp503insAlaSerVa... | |
| NM_005228.4:c.2300_2308dup (EGFR) | NP_005219.2:p.Val769_Asp770insAlaSerVal | |
| NM_005228.5:c.2300_2308dup (EGFR) MANE Select | NP_005219.2:p.Val769_Asp770insAlaSerVal | |
| NM_001346897.2:c.2165_2173dup (EGFR) | NP_001333826.1:p.Val724_Asp725insAlaSerVa... | |
| NM_001346898.2:c.2300_2308dup (EGFR) | NP_001333827.1:p.Val769_Asp770insAlaSerVa... | |
| NM_001346900.2:c.2141_2149dup (EGFR) | NP_001333829.1:p.Val716_Asp717insAlaSerVa... | |
| NM_001346941.2:c.1499_1507dup (EGFR) | NP_001333870.1:p.Val502_Asp503insAlaSerVa... | |
| NM_001346899.2:c.2165_2173dup (EGFR) | NP_001333828.1:p.Val724_Asp725insAlaSerVa... |