Canonical Allele Identifier: CA135794
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45233
ClinVar RCV Id: RCV000038389
dbSNP Id: rs397517094

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174769_55174786delinsAAA , CM000669.2:g.55174769_55174786delinsAAA GRCh38
NC_000007.13:g.55242462_55242479delinsAAA , CM000669.1:g.55242462_55242479delinsAAA GRCh37
NC_000007.12:g.55209956_55209973delinsAAA NCBI36
NG_007726.3:g.160738_160755delinsAAA , LRG_304:g.160738_160755delinsAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2232_2249delinsAAA MANE Select ENSP00000275493.2:p.Glu746_Ala750del
ENST00000275493.6:c.2232_2249delinsAAA ENSP00000275493.2:p.Glu746_Ala750del
ENST00000442591.5:c.*28+1841_*28+1858delinsAAA ENSP00000410031.1:p.=
ENST00000454757.6:c.2097_2114delinsAAA ENSP00000395243.3:p.Glu701_Ala705del
ENST00000455089.5:c.2097_2114delinsAAA ENSP00000415559.1:p.Glu701_Ala705del
NM_005228.3:c.2232_2249delinsAAA , LRG_304t1:c.2232_2249delinsAAA NP_005219.2:p.Glu746_Ala750del
NM_001346897.1:c.2097_2114delinsAAA NP_001333826.1:p.Glu701_Ala705del
NM_001346898.1:c.2232_2249delinsAAA NP_001333827.1:p.Glu746_Ala750del
NM_001346899.1:c.2097_2114delinsAAA NP_001333828.1:p.Glu701_Ala705del
NM_001346900.1:c.2073_2090delinsAAA NP_001333829.1:p.Glu693_Ala697del
NM_001346941.1:c.1431_1448delinsAAA NP_001333870.1:p.Glu479_Ala483del
NM_005228.4:c.2232_2249delinsAAA NP_005219.2:p.Glu746_Ala750del
NM_005228.5:c.2232_2249delinsAAA MANE Select NP_005219.2:p.Glu746_Ala750del
NM_001346897.2:c.2097_2114delinsAAA NP_001333826.1:p.Glu701_Ala705del
NM_001346898.2:c.2232_2249delinsAAA NP_001333827.1:p.Glu746_Ala750del
NM_001346900.2:c.2073_2090delinsAAA NP_001333829.1:p.Glu693_Ala697del
NM_001346941.2:c.1431_1448delinsAAA NP_001333870.1:p.Glu479_Ala483del
NM_001346899.2:c.2097_2114delinsAAA NP_001333828.1:p.Glu701_Ala705del