UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
177911
ClinVar RCV Id:
RCV000154568
dbSNP Id:
rs397517115
MyVariant Identifiers:
chr7:g.55249013_55249021dupAACCCCCAC (hg19)
chr7:g.55249021_55249022insAACCCCCAC (hg19)
chr7:g.55249019_55249020insACAACCCCC (hg19)
chr7:g.55181320_55181328dupAACCCCCAC (hg38)
chr7:g.55181328_55181329insAACCCCCAC (hg38)
chr7:g.55181326_55181327insACAACCCCC (hg38)
CIViC:
CA180983
PubMed:
PMID:16187797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181320_55181328dup , CM000669.2:g.55181320_55181328dup | GRCh38 |
| NC_000007.13:g.55249013_55249021dup , CM000669.1:g.55249013_55249021dup | GRCh37 |
| NC_000007.12:g.55216507_55216515dup | NCBI36 |
| NG_007726.3:g.167289_167297dup , LRG_304:g.167289_167297dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2152_2160dup (EGFR) | ENSP00000413354.2:p.His720_Val721insAsnPr... | |
| ENST00000700145.1:c.660_668dup (EGFR) | ||
| ENST00000275493.7:c.2311_2319dup (EGFR) MANE Select | ENSP00000275493.2:p.His773_Val774insAsnPr... | |
| ENST00000275493.6:c.2311_2319dup (EGFR) | ENSP00000275493.2:p.His773_Val774insAsnPr... | |
| ENST00000442591.5:c.*28+8392_*28+8400dup (EGFR) | ENSP00000410031.1:n.*28+8392_*28+8400dup | |
| ENST00000454757.6:c.2176_2184dup (EGFR) | ENSP00000395243.3:p.His728_Val729insAsnPr... | |
| ENST00000455089.5:c.2176_2184dup (EGFR) | ENSP00000415559.1:p.His728_Val729insAsnPr... | |
| NM_005228.3:c.2311_2319dup , LRG_304t1:c.2311_2319dup (EGFR) | NP_005219.2:p.His773_Val774insAsnProHis | |
| NR_047551.1:n.1245_1253dup (EGFR-AS1) | ||
| NM_001346897.1:c.2176_2184dup (EGFR) | NP_001333826.1:p.His728_Val729insAsnProHi... | |
| NM_001346898.1:c.2311_2319dup (EGFR) | NP_001333827.1:p.His773_Val774insAsnProHi... | |
| NM_001346899.1:c.2176_2184dup (EGFR) | NP_001333828.1:p.His728_Val729insAsnProHi... | |
| NM_001346900.1:c.2152_2160dup (EGFR) | NP_001333829.1:p.His720_Val721insAsnProHi... | |
| NM_001346941.1:c.1510_1518dup (EGFR) | NP_001333870.1:p.His506_Val507insAsnProHi... | |
| NM_005228.4:c.2311_2319dup (EGFR) | NP_005219.2:p.His773_Val774insAsnProHis | |
| NM_005228.5:c.2311_2319dup (EGFR) MANE Select | NP_005219.2:p.His773_Val774insAsnProHis | |
| NM_001346897.2:c.2176_2184dup (EGFR) | NP_001333826.1:p.His728_Val729insAsnProHi... | |
| NM_001346898.2:c.2311_2319dup (EGFR) | NP_001333827.1:p.His773_Val774insAsnProHi... | |
| NM_001346900.2:c.2152_2160dup (EGFR) | NP_001333829.1:p.His720_Val721insAsnProHi... | |
| NM_001346941.2:c.1510_1518dup (EGFR) | NP_001333870.1:p.His506_Val507insAsnProHi... | |
| NM_001346899.2:c.2176_2184dup (EGFR) | NP_001333828.1:p.His728_Val729insAsnProHi... |