Canonical Allele Identifier: CA175996
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 163343
ClinVar RCV Id: RCV000150617
dbSNP Id: rs121913421
COSMIC: COSM6223
CIViC: CA175996

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174772_55174786del , CM000669.2:g.55174772_55174786del GRCh38
NC_000007.13:g.55242465_55242479del , CM000669.1:g.55242465_55242479del GRCh37
NC_000007.12:g.55209959_55209973del NCBI36
NG_007726.3:g.160741_160755del , LRG_304:g.160741_160755del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2235_2249del MANE Select ENSP00000275493.2:p.Glu746_Ala750del
ENST00000275493.6:c.2235_2249del ENSP00000275493.2:p.Glu746_Ala750del
ENST00000442591.5:c.*28+1844_*28+1858del ENSP00000410031.1:p.=
ENST00000454757.6:c.2100_2114del ENSP00000395243.3:p.Glu701_Ala705del
ENST00000455089.5:c.2100_2114del ENSP00000415559.1:p.Glu701_Ala705del
NM_005228.3:c.2235_2249del , LRG_304t1:c.2235_2249del NP_005219.2:p.Glu746_Ala750del
NM_001346897.1:c.2100_2114del NP_001333826.1:p.Glu701_Ala705del
NM_001346898.1:c.2235_2249del NP_001333827.1:p.Glu746_Ala750del
NM_001346899.1:c.2100_2114del NP_001333828.1:p.Glu701_Ala705del
NM_001346900.1:c.2076_2090del NP_001333829.1:p.Glu693_Ala697del
NM_001346941.1:c.1434_1448del NP_001333870.1:p.Glu479_Ala483del
NM_005228.4:c.2235_2249del NP_005219.2:p.Glu746_Ala750del
NM_005228.5:c.2235_2249del MANE Select NP_005219.2:p.Glu746_Ala750del
NM_001346897.2:c.2100_2114del NP_001333826.1:p.Glu701_Ala705del
NM_001346898.2:c.2235_2249del NP_001333827.1:p.Glu746_Ala750del
NM_001346900.2:c.2076_2090del NP_001333829.1:p.Glu693_Ala697del
NM_001346941.2:c.1434_1448del NP_001333870.1:p.Glu479_Ala483del
NM_001346899.2:c.2100_2114del NP_001333828.1:p.Glu701_Ala705del