Canonical Allele Identifier: CA176000
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 163352
ClinVar RCV Id: RCV000150619
dbSNP Id: rs727503016
COSMIC: COSM18421

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174774_55174788delinsTTC , CM000669.2:g.55174774_55174788delinsTTC GRCh38
NC_000007.13:g.55242467_55242481delinsTTC , CM000669.1:g.55242467_55242481delinsTTC GRCh37
NC_000007.12:g.55209961_55209975delinsTTC NCBI36
NG_007726.3:g.160743_160757delinsTTC , LRG_304:g.160743_160757delinsTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2078_2092delinsTTC ENSP00000413354.2:p.Glu693_Thr698delinsValPro
ENST00000700145.1:c.586_600delinsTTC
ENST00000275493.7:c.2237_2251delinsTTC MANE Select ENSP00000275493.2:p.Glu746_Thr751delinsValPro
ENST00000275493.6:c.2237_2251delinsTTC ENSP00000275493.2:p.Glu746_Thr751delinsValPro
ENST00000442591.5:c.*28+1846_*28+1860delinsTTC ENSP00000410031.1:n.*28+1846_*28+1860delinsTTC
ENST00000454757.6:c.2102_2116delinsTTC ENSP00000395243.3:p.Glu701_Thr706delinsValPro
ENST00000455089.5:c.2102_2116delinsTTC ENSP00000415559.1:p.Glu701_Thr706delinsValPro
NM_005228.3:c.2237_2251delinsTTC , LRG_304t1:c.2237_2251delinsTTC NP_005219.2:p.Glu746_Thr751delinsValPro
NM_001346897.1:c.2102_2116delinsTTC NP_001333826.1:p.Glu701_Thr706delinsValPro
NM_001346898.1:c.2237_2251delinsTTC NP_001333827.1:p.Glu746_Thr751delinsValPro
NM_001346899.1:c.2102_2116delinsTTC NP_001333828.1:p.Glu701_Thr706delinsValPro
NM_001346900.1:c.2078_2092delinsTTC NP_001333829.1:p.Glu693_Thr698delinsValPro
NM_001346941.1:c.1436_1450delinsTTC NP_001333870.1:p.Glu479_Thr484delinsValPro
NM_005228.4:c.2237_2251delinsTTC NP_005219.2:p.Glu746_Thr751delinsValPro
NM_005228.5:c.2237_2251delinsTTC MANE Select NP_005219.2:p.Glu746_Thr751delinsValPro
NM_001346897.2:c.2102_2116delinsTTC NP_001333826.1:p.Glu701_Thr706delinsValPro
NM_001346898.2:c.2237_2251delinsTTC NP_001333827.1:p.Glu746_Thr751delinsValPro
NM_001346900.2:c.2078_2092delinsTTC NP_001333829.1:p.Glu693_Thr698delinsValPro
NM_001346941.2:c.1436_1450delinsTTC NP_001333870.1:p.Glu479_Thr484delinsValPro
NM_001346899.2:c.2102_2116delinsTTC NP_001333828.1:p.Glu701_Thr706delinsValPro