Canonical Allele Identifier: CA158932595
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs121913423
COSMIC: COSM6220

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174775_55174792del , CM000669.2:g.55174775_55174792del GRCh38
NC_000007.13:g.55242468_55242485del , CM000669.1:g.55242468_55242485del GRCh37
NC_000007.12:g.55209962_55209979del NCBI36
NG_007726.3:g.160744_160761del , LRG_304:g.160744_160761del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2079_2096del ENSP00000413354.2:p.Glu693_Ser699delinsAs...
ENST00000700145.1:c.587_604del
ENST00000275493.7:c.2238_2255del MANE Select ENSP00000275493.2:p.Glu746_Ser752delinsAs...
ENST00000275493.6:c.2238_2255del ENSP00000275493.2:p.Glu746_Ser752delinsAs...
ENST00000442591.5:c.*28+1847_*28+1864del ENSP00000410031.1:n.*28+1847_*28+1864del
ENST00000454757.6:c.2103_2120del ENSP00000395243.3:p.Glu701_Ser707delinsAs...
ENST00000455089.5:c.2103_2120del ENSP00000415559.1:p.Glu701_Ser707delinsAs...
NM_005228.3:c.2238_2255del , LRG_304t1:c.2238_2255del NP_005219.2:p.Glu746_Ser752delinsAsp
NM_001346897.1:c.2103_2120del NP_001333826.1:p.Glu701_Ser707delinsAsp
NM_001346898.1:c.2238_2255del NP_001333827.1:p.Glu746_Ser752delinsAsp
NM_001346899.1:c.2103_2120del NP_001333828.1:p.Glu701_Ser707delinsAsp
NM_001346900.1:c.2079_2096del NP_001333829.1:p.Glu693_Ser699delinsAsp
NM_001346941.1:c.1437_1454del NP_001333870.1:p.Glu479_Ser485delinsAsp
NM_005228.4:c.2238_2255del NP_005219.2:p.Glu746_Ser752delinsAsp
NM_005228.5:c.2238_2255del MANE Select NP_005219.2:p.Glu746_Ser752delinsAsp
NM_001346897.2:c.2103_2120del NP_001333826.1:p.Glu701_Ser707delinsAsp
NM_001346898.2:c.2238_2255del NP_001333827.1:p.Glu746_Ser752delinsAsp
NM_001346900.2:c.2079_2096del NP_001333829.1:p.Glu693_Ser699delinsAsp
NM_001346941.2:c.1437_1454del NP_001333870.1:p.Glu479_Ser485delinsAsp
NM_001346899.2:c.2103_2120del NP_001333828.1:p.Glu701_Ser707delinsAsp