Canonical Allele Identifier: CA645550316
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128953720
COSMIC: COSM18441

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174013_55174014delinsTT , CM000669.2:g.55174013_55174014delinsTT GRCh38
NC_000007.13:g.55241706_55241707delinsTT , CM000669.1:g.55241706_55241707delinsTT GRCh37
NC_000007.12:g.55209200_55209201delinsTT NCBI36
NG_007726.3:g.159982_159983delinsTT , LRG_304:g.159982_159983delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.1995_1996delinsTT ENSP00000413354.2:p.Gly666Cys
ENST00000700145.1:c.503_504delinsTT
ENST00000275493.7:c.2154_2155delinsTT MANE Select ENSP00000275493.2:p.Gly719Cys
ENST00000275493.6:c.2154_2155delinsTT ENSP00000275493.2:p.Gly719Cys
ENST00000442591.5:c.*28+1085_*28+1086delinsTT ENSP00000410031.1:n.*28+1085_*28+1086delinsTT
ENST00000454757.6:c.2019_2020delinsTT ENSP00000395243.3:p.Gly674Cys
ENST00000455089.5:c.2019_2020delinsTT ENSP00000415559.1:p.Gly674Cys
NM_005228.3:c.2154_2155delinsTT , LRG_304t1:c.2154_2155delinsTT NP_005219.2:p.Gly719Cys
NM_001346897.1:c.2019_2020delinsTT NP_001333826.1:p.Gly674Cys
NM_001346898.1:c.2154_2155delinsTT NP_001333827.1:p.Gly719Cys
NM_001346899.1:c.2019_2020delinsTT NP_001333828.1:p.Gly674Cys
NM_001346900.1:c.1995_1996delinsTT NP_001333829.1:p.Gly666Cys
NM_001346941.1:c.1353_1354delinsTT NP_001333870.1:p.Gly452Cys
NM_005228.4:c.2154_2155delinsTT NP_005219.2:p.Gly719Cys
NM_005228.5:c.2154_2155delinsTT MANE Select NP_005219.2:p.Gly719Cys
NM_001346897.2:c.2019_2020delinsTT NP_001333826.1:p.Gly674Cys
NM_001346898.2:c.2154_2155delinsTT NP_001333827.1:p.Gly719Cys
NM_001346900.2:c.1995_1996delinsTT NP_001333829.1:p.Gly666Cys
NM_001346941.2:c.1353_1354delinsTT NP_001333870.1:p.Gly452Cys
NM_001346899.2:c.2019_2020delinsTT NP_001333828.1:p.Gly674Cys