Canonical Allele Identifier: CA180560
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177645
ClinVar RCV Id: RCV000154229
dbSNP Id: rs121913425
COSMIC: COSM12678
CIViC: CA180560

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174774_55174788del , CM000669.2:g.55174774_55174788del GRCh38
NC_000007.13:g.55242467_55242481del , CM000669.1:g.55242467_55242481del GRCh37
NC_000007.12:g.55209961_55209975del NCBI36
NG_007726.3:g.160743_160757del , LRG_304:g.160743_160757del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2237_2251del MANE Select ENSP00000275493.2:p.Glu746_Thr751delinsAl...
ENST00000275493.6:c.2237_2251del ENSP00000275493.2:p.Glu746_Thr751delinsAl...
ENST00000442591.5:c.*28+1846_*28+1860del ENSP00000410031.1:p.=
ENST00000454757.6:c.2102_2116del ENSP00000395243.3:p.Glu701_Thr706delinsAl...
ENST00000455089.5:c.2102_2116del ENSP00000415559.1:p.Glu701_Thr706delinsAl...
NM_005228.3:c.2237_2251del , LRG_304t1:c.2237_2251del NP_005219.2:p.Glu746_Thr751delinsAla
NM_001346897.1:c.2102_2116del NP_001333826.1:p.Glu701_Thr706delinsAla
NM_001346898.1:c.2237_2251del NP_001333827.1:p.Glu746_Thr751delinsAla
NM_001346899.1:c.2102_2116del NP_001333828.1:p.Glu701_Thr706delinsAla
NM_001346900.1:c.2078_2092del NP_001333829.1:p.Glu693_Thr698delinsAla
NM_001346941.1:c.1436_1450del NP_001333870.1:p.Glu479_Thr484delinsAla
NM_005228.4:c.2237_2251del NP_005219.2:p.Glu746_Thr751delinsAla
NM_005228.5:c.2237_2251del MANE Select NP_005219.2:p.Glu746_Thr751delinsAla
NM_001346897.2:c.2102_2116del NP_001333826.1:p.Glu701_Thr706delinsAla
NM_001346898.2:c.2237_2251del NP_001333827.1:p.Glu746_Thr751delinsAla
NM_001346900.2:c.2078_2092del NP_001333829.1:p.Glu693_Thr698delinsAla
NM_001346941.2:c.1436_1450del NP_001333870.1:p.Glu479_Thr484delinsAla
NM_001346899.2:c.2102_2116del NP_001333828.1:p.Glu701_Thr706delinsAla