Canonical Allele Identifier: CA645561489
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954728
COSMIC: COSM24869

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174772_55174789del , CM000669.2:g.55174772_55174789del GRCh38
NC_000007.13:g.55242465_55242482del , CM000669.1:g.55242465_55242482del GRCh37
NC_000007.12:g.55209959_55209976del NCBI36
NG_007726.3:g.160741_160758del , LRG_304:g.160741_160758del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2076_2093del ENSP00000413354.2:p.Glu693_Thr698del
ENST00000700145.1:c.584_601del
ENST00000275493.7:c.2235_2252del MANE Select ENSP00000275493.2:p.Glu746_Thr751del
ENST00000275493.6:c.2235_2252del ENSP00000275493.2:p.Glu746_Thr751del
ENST00000442591.5:c.*28+1844_*28+1861del ENSP00000410031.1:n.*28+1844_*28+1861del
ENST00000454757.6:c.2100_2117del ENSP00000395243.3:p.Glu701_Thr706del
ENST00000455089.5:c.2100_2117del ENSP00000415559.1:p.Glu701_Thr706del
NM_005228.3:c.2235_2252del , LRG_304t1:c.2235_2252del NP_005219.2:p.Glu746_Thr751del
NM_001346897.1:c.2100_2117del NP_001333826.1:p.Glu701_Thr706del
NM_001346898.1:c.2235_2252del NP_001333827.1:p.Glu746_Thr751del
NM_001346899.1:c.2100_2117del NP_001333828.1:p.Glu701_Thr706del
NM_001346900.1:c.2076_2093del NP_001333829.1:p.Glu693_Thr698del
NM_001346941.1:c.1434_1451del NP_001333870.1:p.Glu479_Thr484del
NM_005228.4:c.2235_2252del NP_005219.2:p.Glu746_Thr751del
NM_005228.5:c.2235_2252del MANE Select NP_005219.2:p.Glu746_Thr751del
NM_001346897.2:c.2100_2117del NP_001333826.1:p.Glu701_Thr706del
NM_001346898.2:c.2235_2252del NP_001333827.1:p.Glu746_Thr751del
NM_001346900.2:c.2076_2093del NP_001333829.1:p.Glu693_Thr698del
NM_001346941.2:c.1434_1451del NP_001333870.1:p.Glu479_Thr484del
NM_001346899.2:c.2100_2117del NP_001333828.1:p.Glu701_Thr706del