Canonical Allele Identifier: CA181028
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177933
ClinVar RCV Id: RCV000154593
dbSNP Id: rs121913435
COSMIC: COSM12422

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174775_55174785delinsGC , CM000669.2:g.55174775_55174785delinsGC GRCh38
NC_000007.13:g.55242468_55242478delinsGC , CM000669.1:g.55242468_55242478delinsGC GRCh37
NC_000007.12:g.55209962_55209972delinsGC NCBI36
NG_007726.3:g.160744_160754delinsGC , LRG_304:g.160744_160754delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2238_2248delinsGC MANE Select ENSP00000275493.2:p.Leu747_Ala750delinsPr...
ENST00000275493.6:c.2238_2248delinsGC ENSP00000275493.2:p.Leu747_Ala750delinsPr...
ENST00000442591.5:c.*28+1847_*28+1857delinsGC ENSP00000410031.1:p.=
ENST00000454757.6:c.2103_2113delinsGC ENSP00000395243.3:p.Leu702_Ala705delinsPr...
ENST00000455089.5:c.2103_2113delinsGC ENSP00000415559.1:p.Leu702_Ala705delinsPr...
NM_005228.3:c.2238_2248delinsGC , LRG_304t1:c.2238_2248delinsGC NP_005219.2:p.Leu747_Ala750delinsPro
NM_001346897.1:c.2103_2113delinsGC NP_001333826.1:p.Leu702_Ala705delinsPro
NM_001346898.1:c.2238_2248delinsGC NP_001333827.1:p.Leu747_Ala750delinsPro
NM_001346899.1:c.2103_2113delinsGC NP_001333828.1:p.Leu702_Ala705delinsPro
NM_001346900.1:c.2079_2089delinsGC NP_001333829.1:p.Leu694_Ala697delinsPro
NM_001346941.1:c.1437_1447delinsGC NP_001333870.1:p.Leu480_Ala483delinsPro
NM_005228.4:c.2238_2248delinsGC NP_005219.2:p.Leu747_Ala750delinsPro
NM_005228.5:c.2238_2248delinsGC MANE Select NP_005219.2:p.Leu747_Ala750delinsPro
NM_001346897.2:c.2103_2113delinsGC NP_001333826.1:p.Leu702_Ala705delinsPro
NM_001346898.2:c.2238_2248delinsGC NP_001333827.1:p.Leu747_Ala750delinsPro
NM_001346900.2:c.2079_2089delinsGC NP_001333829.1:p.Leu694_Ala697delinsPro
NM_001346941.2:c.1437_1447delinsGC NP_001333870.1:p.Leu480_Ala483delinsPro
NM_001346899.2:c.2103_2113delinsGC NP_001333828.1:p.Leu702_Ala705delinsPro