Canonical Allele Identifier: CA2573051074
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174771_55174772insAATTCCGGTGGCCATTAA , CM000669.2:g.55174771_55174772insAATTCCGGTGGCCATTAA GRCh38
NC_000007.13:g.55242464_55242465insAATTCCGGTGGCCATTAA , CM000669.1:g.55242464_55242465insAATTCCGGTGGCCATTAA GRCh37
NC_000007.12:g.55209958_55209959insAATTCCGGTGGCCATTAA NCBI36
NG_007726.3:g.160740_160741insAATTCCGGTGGCCATTAA , LRG_304:g.160740_160741insAATTCCGGTGGCCATTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2234_2235insAATTCCGGTGGCCATTAA MANE Select ENSP00000275493.2:p.Lys745_Glu746insIlePr...
ENST00000275493.6:c.2234_2235insAATTCCGGTGGCCATTAA ENSP00000275493.2:p.Lys745_Glu746insIlePr...
ENST00000442591.5:c.*28+1843_*28+1844insAATTCCGGTGGCCATTAA ENSP00000410031.1:n.*28+1843_*28+1844insA...
ENST00000454757.6:c.2099_2100insAATTCCGGTGGCCATTAA ENSP00000395243.3:p.Lys700_Glu701insIlePr...
ENST00000455089.5:c.2099_2100insAATTCCGGTGGCCATTAA ENSP00000415559.1:p.Lys700_Glu701insIlePr...
NM_005228.3:c.2234_2235insAATTCCGGTGGCCATTAA , LRG_304t1:c.2234_2235insAATTCCGGTGGCCATTAA NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_001346897.1:c.2099_2100insAATTCCGGTGGCCATTAA NP_001333826.1:p.Lys700_Glu701insIleProVa...
NM_001346898.1:c.2234_2235insAATTCCGGTGGCCATTAA NP_001333827.1:p.Lys745_Glu746insIleProVa...
NM_001346899.1:c.2099_2100insAATTCCGGTGGCCATTAA NP_001333828.1:p.Lys700_Glu701insIleProVa...
NM_001346900.1:c.2075_2076insAATTCCGGTGGCCATTAA NP_001333829.1:p.Lys692_Glu693insIleProVa...
NM_001346941.1:c.1433_1434insAATTCCGGTGGCCATTAA NP_001333870.1:p.Lys478_Glu479insIleProVa...
NM_005228.4:c.2234_2235insAATTCCGGTGGCCATTAA NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_005228.5:c.2234_2235insAATTCCGGTGGCCATTAA MANE Select NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_001346897.2:c.2099_2100insAATTCCGGTGGCCATTAA NP_001333826.1:p.Lys700_Glu701insIleProVa...
NM_001346898.2:c.2234_2235insAATTCCGGTGGCCATTAA NP_001333827.1:p.Lys745_Glu746insIleProVa...
NM_001346900.2:c.2075_2076insAATTCCGGTGGCCATTAA NP_001333829.1:p.Lys692_Glu693insIleProVa...
NM_001346941.2:c.1433_1434insAATTCCGGTGGCCATTAA NP_001333870.1:p.Lys478_Glu479insIleProVa...
NM_001346899.2:c.2099_2100insAATTCCGGTGGCCATTAA NP_001333828.1:p.Lys700_Glu701insIleProVa...