Canonical Allele Identifier: CA645561488
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 977766
ClinVar RCV Id: RCV001255641
dbSNP Id: rs1786518484
COSMIC: COSM18420

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174772_55174774del , CM000669.2:g.55174772_55174774del GRCh38
NC_000007.13:g.55242465_55242467del , CM000669.1:g.55242465_55242467del GRCh37
NC_000007.12:g.55209959_55209961del NCBI36
NG_007726.3:g.160741_160743del , LRG_304:g.160741_160743del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2235_2237del MANE Select ENSP00000275493.2:p.Glu746del
ENST00000275493.6:c.2235_2237del ENSP00000275493.2:p.Glu746del
ENST00000442591.5:c.*28+1844_*28+1846del ENSP00000410031.1:p.=
ENST00000454757.6:c.2100_2102del ENSP00000395243.3:p.Glu701del
ENST00000455089.5:c.2100_2102del ENSP00000415559.1:p.Glu701del
NM_005228.3:c.2235_2237del , LRG_304t1:c.2235_2237del NP_005219.2:p.Glu746del
NM_001346897.1:c.2100_2102del NP_001333826.1:p.Glu701del
NM_001346898.1:c.2235_2237del NP_001333827.1:p.Glu746del
NM_001346899.1:c.2100_2102del NP_001333828.1:p.Glu701del
NM_001346900.1:c.2076_2078del NP_001333829.1:p.Glu693del
NM_001346941.1:c.1434_1436del NP_001333870.1:p.Glu479del
NM_005228.4:c.2235_2237del NP_005219.2:p.Glu746del
NM_005228.5:c.2235_2237del MANE Select NP_005219.2:p.Glu746del
NM_001346897.2:c.2100_2102del NP_001333826.1:p.Glu701del
NM_001346898.2:c.2235_2237del NP_001333827.1:p.Glu746del
NM_001346900.2:c.2076_2078del NP_001333829.1:p.Glu693del
NM_001346941.2:c.1434_1436del NP_001333870.1:p.Glu479del
NM_001346899.2:c.2100_2102del NP_001333828.1:p.Glu701del