Canonical Allele Identifier: CA180726
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177765
ClinVar RCV Id: RCV000154382
dbSNP Id: rs121913436
COSMIC: COSM6218

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174784del , CM000669.2:g.55174776_55174784del GRCh38
NC_000007.13:g.55242469_55242477del , CM000669.1:g.55242469_55242477del GRCh37
NC_000007.12:g.55209963_55209971del NCBI36
NG_007726.3:g.160745_160753del , LRG_304:g.160745_160753del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2080_2088del ENSP00000413354.2:p.Leu694_Glu696del
ENST00000700145.1:c.588_596del
ENST00000275493.7:c.2239_2247del MANE Select ENSP00000275493.2:p.Leu747_Glu749del
ENST00000275493.6:c.2239_2247del ENSP00000275493.2:p.Leu747_Glu749del
ENST00000442591.5:c.*28+1848_*28+1856del ENSP00000410031.1:n.*28+1848_*28+1856del
ENST00000454757.6:c.2104_2112del ENSP00000395243.3:p.Leu702_Glu704del
ENST00000455089.5:c.2104_2112del ENSP00000415559.1:p.Leu702_Glu704del
NM_005228.3:c.2239_2247del , LRG_304t1:c.2239_2247del NP_005219.2:p.Leu747_Glu749del
NM_001346897.1:c.2104_2112del NP_001333826.1:p.Leu702_Glu704del
NM_001346898.1:c.2239_2247del NP_001333827.1:p.Leu747_Glu749del
NM_001346899.1:c.2104_2112del NP_001333828.1:p.Leu702_Glu704del
NM_001346900.1:c.2080_2088del NP_001333829.1:p.Leu694_Glu696del
NM_001346941.1:c.1438_1446del NP_001333870.1:p.Leu480_Glu482del
NM_005228.4:c.2239_2247del NP_005219.2:p.Leu747_Glu749del
NM_005228.5:c.2239_2247del MANE Select NP_005219.2:p.Leu747_Glu749del
NM_001346897.2:c.2104_2112del NP_001333826.1:p.Leu702_Glu704del
NM_001346898.2:c.2239_2247del NP_001333827.1:p.Leu747_Glu749del
NM_001346900.2:c.2080_2088del NP_001333829.1:p.Leu694_Glu696del
NM_001346941.2:c.1438_1446del NP_001333870.1:p.Leu480_Glu482del
NM_001346899.2:c.2104_2112del NP_001333828.1:p.Leu702_Glu704del