Linked Data
ClinVar Variation Id:
177662
ClinVar RCV Id:
RCV000154251
dbSNP Id:
rs1554350351
COSMIC:
COSM22946
PubMed:
PMID:16187797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181320_55181321insCAC , CM000669.2:g.55181320_55181321insCAC | GRCh38 |
| NC_000007.13:g.55249013_55249014insCAC , CM000669.1:g.55249013_55249014insCAC | GRCh37 |
| NC_000007.12:g.55216507_55216508insCAC | NCBI36 |
| NG_007726.3:g.167289_167290insCAC , LRG_304:g.167289_167290insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2152_2153insCAC (EGFR) | ENSP00000413354.2:p.Asn718delinsThrHis | |
| ENST00000700145.1:c.660_661insCAC (EGFR) | ||
| ENST00000275493.7:c.2311_2312insCAC (EGFR) MANE Select | ENSP00000275493.2:p.Asn771delinsThrHis | |
| ENST00000275493.6:c.2311_2312insCAC (EGFR) | ENSP00000275493.2:p.Asn771delinsThrHis | |
| ENST00000442591.5:c.*28+8392_*28+8393insCAC (EGFR) | ENSP00000410031.1:n.*28+8392_*28+8393insCAC | |
| ENST00000454757.6:c.2176_2177insCAC (EGFR) | ENSP00000395243.3:p.Asn726delinsThrHis | |
| ENST00000455089.5:c.2176_2177insCAC (EGFR) | ENSP00000415559.1:p.Asn726delinsThrHis | |
| NM_005228.3:c.2311_2312insCAC , LRG_304t1:c.2311_2312insCAC (EGFR) | NP_005219.2:p.Asn771delinsThrHis | |
| NR_047551.1:n.1250_1251insGTG (EGFR-AS1) | ||
| NM_001346897.1:c.2176_2177insCAC (EGFR) | NP_001333826.1:p.Asn726delinsThrHis | |
| NM_001346898.1:c.2311_2312insCAC (EGFR) | NP_001333827.1:p.Asn771delinsThrHis | |
| NM_001346899.1:c.2176_2177insCAC (EGFR) | NP_001333828.1:p.Asn726delinsThrHis | |
| NM_001346900.1:c.2152_2153insCAC (EGFR) | NP_001333829.1:p.Asn718delinsThrHis | |
| NM_001346941.1:c.1510_1511insCAC (EGFR) | NP_001333870.1:p.Asn504delinsThrHis | |
| NM_005228.4:c.2311_2312insCAC (EGFR) | NP_005219.2:p.Asn771delinsThrHis | |
| NM_005228.5:c.2311_2312insCAC (EGFR) MANE Select | NP_005219.2:p.Asn771delinsThrHis | |
| NM_001346897.2:c.2176_2177insCAC (EGFR) | NP_001333826.1:p.Asn726delinsThrHis | |
| NM_001346898.2:c.2311_2312insCAC (EGFR) | NP_001333827.1:p.Asn771delinsThrHis | |
| NM_001346900.2:c.2152_2153insCAC (EGFR) | NP_001333829.1:p.Asn718delinsThrHis | |
| NM_001346941.2:c.1510_1511insCAC (EGFR) | NP_001333870.1:p.Asn504delinsThrHis | |
| NM_001346899.2:c.2176_2177insCAC (EGFR) | NP_001333828.1:p.Asn726delinsThrHis |