Canonical Allele Identifier: CA180811
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177813
ClinVar RCV Id: RCV000154445
dbSNP Id: rs121913424
COSMIC: COSM18426

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174774_55174793delinsTC , CM000669.2:g.55174774_55174793delinsTC GRCh38
NC_000007.13:g.55242467_55242486delinsTC , CM000669.1:g.55242467_55242486delinsTC GRCh37
NC_000007.12:g.55209961_55209980delinsTC NCBI36
NG_007726.3:g.160743_160762delinsTC , LRG_304:g.160743_160762delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2078_2097delinsTC ENSP00000413354.2:p.Glu693_Ser699delinsVa...
ENST00000700145.1:c.586_605delinsTC
ENST00000275493.7:c.2237_2256delinsTC MANE Select ENSP00000275493.2:p.Glu746_Ser752delinsVa...
ENST00000275493.6:c.2237_2256delinsTC ENSP00000275493.2:p.Glu746_Ser752delinsVa...
ENST00000442591.5:c.*28+1846_*28+1865delinsTC ENSP00000410031.1:n.*28+1846_*28+1865deli...
ENST00000454757.6:c.2102_2121delinsTC ENSP00000395243.3:p.Glu701_Ser707delinsVa...
ENST00000455089.5:c.2102_2121delinsTC ENSP00000415559.1:p.Glu701_Ser707delinsVa...
NM_005228.3:c.2237_2256delinsTC , LRG_304t1:c.2237_2256delinsTC NP_005219.2:p.Glu746_Ser752delinsVal
NM_001346897.1:c.2102_2121delinsTC NP_001333826.1:p.Glu701_Ser707delinsVal
NM_001346898.1:c.2237_2256delinsTC NP_001333827.1:p.Glu746_Ser752delinsVal
NM_001346899.1:c.2102_2121delinsTC NP_001333828.1:p.Glu701_Ser707delinsVal
NM_001346900.1:c.2078_2097delinsTC NP_001333829.1:p.Glu693_Ser699delinsVal
NM_001346941.1:c.1436_1455delinsTC NP_001333870.1:p.Glu479_Ser485delinsVal
NM_005228.4:c.2237_2256delinsTC NP_005219.2:p.Glu746_Ser752delinsVal
NM_005228.5:c.2237_2256delinsTC MANE Select NP_005219.2:p.Glu746_Ser752delinsVal
NM_001346897.2:c.2102_2121delinsTC NP_001333826.1:p.Glu701_Ser707delinsVal
NM_001346898.2:c.2237_2256delinsTC NP_001333827.1:p.Glu746_Ser752delinsVal
NM_001346900.2:c.2078_2097delinsTC NP_001333829.1:p.Glu693_Ser699delinsVal
NM_001346941.2:c.1436_1455delinsTC NP_001333870.1:p.Glu479_Ser485delinsVal
NM_001346899.2:c.2102_2121delinsTC NP_001333828.1:p.Glu701_Ser707delinsVal