Canonical Allele Identifier: CA1708918308
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174768_55174789delinsTCAAGGAATTAAGAGAAGCAAC , CM000669.2:g.55174768_55174789delinsTCAAGGAATTAAGAGAAGCAAC GRCh38
NC_000007.13:g.55242461_55242482delinsTCAAGGAATTAAGAGAAGCAAC , CM000669.1:g.55242461_55242482delinsTCAAGGAATTAAGAGAAGCAAC GRCh37
NC_000007.12:g.55209955_55209976delinsTCAAGGAATTAAGAGAAGCAAC NCBI36
NG_007726.3:g.160737_160758delinsTCAAGGAATTAAGAGAAGCAAC , LRG_304:g.160737_160758delinsTCAAGGAATTAAGAGAAGCAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC MANE Select ENSP00000275493.2:p.Ile744=
ENST00000275493.6:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC ENSP00000275493.2:p.Ile744=
ENST00000442591.5:c.*28+1840_*28+1861delinsTCAAGGAATTAAGAGAAGCAAC ENSP00000410031.1:p.=
ENST00000454757.6:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC ENSP00000395243.3:p.Ile699=
ENST00000455089.5:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC ENSP00000415559.1:p.Ile699=
NM_005228.3:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC , LRG_304t1:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC NP_005219.2:p.Ile744=
NM_001346897.1:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC NP_001333826.1:p.Ile699=
NM_001346898.1:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC NP_001333827.1:p.Ile744=
NM_001346899.1:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC NP_001333828.1:p.Ile699=
NM_001346900.1:c.2072_2093delinsTCAAGGAATTAAGAGAAGCAAC NP_001333829.1:p.Ile691=
NM_001346941.1:c.1430_1451delinsTCAAGGAATTAAGAGAAGCAAC NP_001333870.1:p.Ile477=
NM_005228.4:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC NP_005219.2:p.Ile744=
NM_005228.5:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC MANE Select NP_005219.2:p.Ile744=
NM_001346897.2:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC NP_001333826.1:p.Ile699=
NM_001346898.2:c.2231_2252delinsTCAAGGAATTAAGAGAAGCAAC NP_001333827.1:p.Ile744=
NM_001346900.2:c.2072_2093delinsTCAAGGAATTAAGAGAAGCAAC NP_001333829.1:p.Ile691=
NM_001346941.2:c.1430_1451delinsTCAAGGAATTAAGAGAAGCAAC NP_001333870.1:p.Ile477=
NM_001346899.2:c.2096_2117delinsTCAAGGAATTAAGAGAAGCAAC NP_001333828.1:p.Ile699=