Canonical Allele Identifier: CA180612
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177684
ClinVar RCV Id: RCV000154283
dbSNP Id: rs727504278
COSMIC: COSM12382

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174785delinsC , CM000669.2:g.55174776_55174785delinsC GRCh38
NC_000007.13:g.55242469_55242478delinsC , CM000669.1:g.55242469_55242478delinsC GRCh37
NC_000007.12:g.55209963_55209972delinsC NCBI36
NG_007726.3:g.160745_160754delinsC , LRG_304:g.160745_160754delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2239_2248delinsC MANE Select ENSP00000275493.2:p.Leu747_Ala750delinsPr...
ENST00000275493.6:c.2239_2248delinsC ENSP00000275493.2:p.Leu747_Ala750delinsPr...
ENST00000442591.5:c.*28+1848_*28+1857delinsC ENSP00000410031.1:p.=
ENST00000454757.6:c.2104_2113delinsC ENSP00000395243.3:p.Leu702_Ala705delinsPr...
ENST00000455089.5:c.2104_2113delinsC ENSP00000415559.1:p.Leu702_Ala705delinsPr...
NM_005228.3:c.2239_2248delinsC , LRG_304t1:c.2239_2248delinsC NP_005219.2:p.Leu747_Ala750delinsPro
NM_001346897.1:c.2104_2113delinsC NP_001333826.1:p.Leu702_Ala705delinsPro
NM_001346898.1:c.2239_2248delinsC NP_001333827.1:p.Leu747_Ala750delinsPro
NM_001346899.1:c.2104_2113delinsC NP_001333828.1:p.Leu702_Ala705delinsPro
NM_001346900.1:c.2080_2089delinsC NP_001333829.1:p.Leu694_Ala697delinsPro
NM_001346941.1:c.1438_1447delinsC NP_001333870.1:p.Leu480_Ala483delinsPro
NM_005228.4:c.2239_2248delinsC NP_005219.2:p.Leu747_Ala750delinsPro
NM_005228.5:c.2239_2248delinsC MANE Select NP_005219.2:p.Leu747_Ala750delinsPro
NM_001346897.2:c.2104_2113delinsC NP_001333826.1:p.Leu702_Ala705delinsPro
NM_001346898.2:c.2239_2248delinsC NP_001333827.1:p.Leu747_Ala750delinsPro
NM_001346900.2:c.2080_2089delinsC NP_001333829.1:p.Leu694_Ala697delinsPro
NM_001346941.2:c.1438_1447delinsC NP_001333870.1:p.Leu480_Ala483delinsPro
NM_001346899.2:c.2104_2113delinsC NP_001333828.1:p.Leu702_Ala705delinsPro