Canonical Allele Identifier: CA645550322
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954651
COSMIC: COSM26444

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174756_55174773dup , CM000669.2:g.55174756_55174773dup GRCh38
NC_000007.13:g.55242449_55242466dup , CM000669.1:g.55242449_55242466dup GRCh37
NC_000007.12:g.55209943_55209960dup NCBI36
NG_007726.3:g.160725_160742dup , LRG_304:g.160725_160742dup

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2060_2077dup ENSP00000413354.2:p.Lys692_Glu693insValPr...
ENST00000700145.1:c.568_585dup
ENST00000275493.7:c.2219_2236dup MANE Select ENSP00000275493.2:p.Lys745_Glu746insValPr...
ENST00000275493.6:c.2219_2236dup ENSP00000275493.2:p.Lys745_Glu746insValPr...
ENST00000442591.5:c.*28+1828_*28+1845dup ENSP00000410031.1:n.*28+1828_*28+1845dup
ENST00000454757.6:c.2084_2101dup ENSP00000395243.3:p.Lys700_Glu701insValPr...
ENST00000455089.5:c.2084_2101dup ENSP00000415559.1:p.Lys700_Glu701insValPr...
NM_005228.3:c.2219_2236dup , LRG_304t1:c.2219_2236dup NP_005219.2:p.Lys745_Glu746insValProValAl...
NM_001346897.1:c.2084_2101dup NP_001333826.1:p.Lys700_Glu701insValProVa...
NM_001346898.1:c.2219_2236dup NP_001333827.1:p.Lys745_Glu746insValProVa...
NM_001346899.1:c.2084_2101dup NP_001333828.1:p.Lys700_Glu701insValProVa...
NM_001346900.1:c.2060_2077dup NP_001333829.1:p.Lys692_Glu693insValProVa...
NM_001346941.1:c.1418_1435dup NP_001333870.1:p.Lys478_Glu479insValProVa...
NM_005228.4:c.2219_2236dup NP_005219.2:p.Lys745_Glu746insValProValAl...
NM_005228.5:c.2219_2236dup MANE Select NP_005219.2:p.Lys745_Glu746insValProValAl...
NM_001346897.2:c.2084_2101dup NP_001333826.1:p.Lys700_Glu701insValProVa...
NM_001346898.2:c.2219_2236dup NP_001333827.1:p.Lys745_Glu746insValProVa...
NM_001346900.2:c.2060_2077dup NP_001333829.1:p.Lys692_Glu693insValProVa...
NM_001346941.2:c.1418_1435dup NP_001333870.1:p.Lys478_Glu479insValProVa...
NM_001346899.2:c.2084_2101dup NP_001333828.1:p.Lys700_Glu701insValProVa...