Canonical Allele Identifier: CA180803
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177808
ClinVar RCV Id: RCV000154438
dbSNP Id: rs727504332
COSMIC: COSM13552

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174772_55174788delinsAATTC , CM000669.2:g.55174772_55174788delinsAATTC GRCh38
NC_000007.13:g.55242465_55242481delinsAATTC , CM000669.1:g.55242465_55242481delinsAATTC GRCh37
NC_000007.12:g.55209959_55209975delinsAATTC NCBI36
NG_007726.3:g.160741_160757delinsAATTC , LRG_304:g.160741_160757delinsAATTC

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2235_2251delinsAATTC MANE Select ENSP00000275493.2:p.Glu746_Thr751delinsIl...
ENST00000275493.6:c.2235_2251delinsAATTC ENSP00000275493.2:p.Glu746_Thr751delinsIl...
ENST00000442591.5:c.*28+1844_*28+1860delinsAATTC ENSP00000410031.1:p.=
ENST00000454757.6:c.2100_2116delinsAATTC ENSP00000395243.3:p.Glu701_Thr706delinsIl...
ENST00000455089.5:c.2100_2116delinsAATTC ENSP00000415559.1:p.Glu701_Thr706delinsIl...
NM_005228.3:c.2235_2251delinsAATTC , LRG_304t1:c.2235_2251delinsAATTC NP_005219.2:p.Glu746_Thr751delinsIlePro
NM_001346897.1:c.2100_2116delinsAATTC NP_001333826.1:p.Glu701_Thr706delinsIlePr...
NM_001346898.1:c.2235_2251delinsAATTC NP_001333827.1:p.Glu746_Thr751delinsIlePr...
NM_001346899.1:c.2100_2116delinsAATTC NP_001333828.1:p.Glu701_Thr706delinsIlePr...
NM_001346900.1:c.2076_2092delinsAATTC NP_001333829.1:p.Glu693_Thr698delinsIlePr...
NM_001346941.1:c.1434_1450delinsAATTC NP_001333870.1:p.Glu479_Thr484delinsIlePr...
NM_005228.4:c.2235_2251delinsAATTC NP_005219.2:p.Glu746_Thr751delinsIlePro
NM_005228.5:c.2235_2251delinsAATTC MANE Select NP_005219.2:p.Glu746_Thr751delinsIlePro
NM_001346897.2:c.2100_2116delinsAATTC NP_001333826.1:p.Glu701_Thr706delinsIlePr...
NM_001346898.2:c.2235_2251delinsAATTC NP_001333827.1:p.Glu746_Thr751delinsIlePr...
NM_001346900.2:c.2076_2092delinsAATTC NP_001333829.1:p.Glu693_Thr698delinsIlePr...
NM_001346941.2:c.1434_1450delinsAATTC NP_001333870.1:p.Glu479_Thr484delinsIlePr...
NM_001346899.2:c.2100_2116delinsAATTC NP_001333828.1:p.Glu701_Thr706delinsIlePr...