Canonical Allele Identifier: CA135785
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45230
ClinVar RCV Id: RCV000038386

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174754_55174771dup , CM000669.2:g.55174754_55174771dup GRCh38
NC_000007.13:g.55242447_55242464dup , CM000669.1:g.55242447_55242464dup GRCh37
NC_000007.12:g.55209941_55209958dup NCBI36
NG_007726.3:g.160723_160740dup , LRG_304:g.160723_160740dup

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2217_2234dup MANE Select ENSP00000275493.2:p.Lys745_Glu746insIlePr...
ENST00000275493.6:c.2217_2234dup ENSP00000275493.2:p.Lys745_Glu746insIlePr...
ENST00000442591.5:c.*28+1826_*28+1843dup ENSP00000410031.1:p.=
ENST00000454757.6:c.2082_2099dup ENSP00000395243.3:p.Lys700_Glu701insIlePr...
ENST00000455089.5:c.2082_2099dup ENSP00000415559.1:p.Lys700_Glu701insIlePr...
NM_005228.3:c.2217_2234dup , LRG_304t1:c.2217_2234dup NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_001346897.1:c.2082_2099dup NP_001333826.1:p.Lys700_Glu701insIleProVa...
NM_001346898.1:c.2217_2234dup NP_001333827.1:p.Lys745_Glu746insIleProVa...
NM_001346899.1:c.2082_2099dup NP_001333828.1:p.Lys700_Glu701insIleProVa...
NM_001346900.1:c.2058_2075dup NP_001333829.1:p.Lys692_Glu693insIleProVa...
NM_001346941.1:c.1416_1433dup NP_001333870.1:p.Lys478_Glu479insIleProVa...
NM_005228.4:c.2217_2234dup NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_005228.5:c.2217_2234dup MANE Select NP_005219.2:p.Lys745_Glu746insIleProValAl...
NM_001346897.2:c.2082_2099dup NP_001333826.1:p.Lys700_Glu701insIleProVa...
NM_001346898.2:c.2217_2234dup NP_001333827.1:p.Lys745_Glu746insIleProVa...
NM_001346900.2:c.2058_2075dup NP_001333829.1:p.Lys692_Glu693insIleProVa...
NM_001346941.2:c.1416_1433dup NP_001333870.1:p.Lys478_Glu479insIleProVa...
NM_001346899.2:c.2082_2099dup NP_001333828.1:p.Lys700_Glu701insIleProVa...