Canonical Allele Identifier: CA3005527459
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191737del , CM000669.2:g.55191737del GRCh38
NC_000007.13:g.55259430del , CM000669.1:g.55259430del GRCh37
NC_000007.12:g.55226924del NCBI36
NG_007726.3:g.177706del , LRG_304:g.177706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2329del ENSP00000413354.2:p.Asp777ThrfsTer16
ENST00000700145.1:c.837del
ENST00000275493.7:c.2488del MANE Select ENSP00000275493.2:p.Asp830ThrfsTer16
ENST00000275493.6:c.2488del ENSP00000275493.2:p.Asp830ThrfsTer16
ENST00000442591.5:c.*28+18809del ENSP00000410031.1:n.*28+18809del
ENST00000454757.6:c.2353del ENSP00000395243.3:p.Asp785ThrfsTer16
ENST00000455089.5:c.2353del ENSP00000415559.1:p.Asp785ThrfsTer16
NM_005228.3:c.2488del , LRG_304t1:c.2488del NP_005219.2:p.Asp830ThrfsTer16
NM_001346897.1:c.2353del NP_001333826.1:p.Asp785ThrfsTer16
NM_001346898.1:c.2488del NP_001333827.1:p.Asp830ThrfsTer16
NM_001346899.1:c.2353del NP_001333828.1:p.Asp785ThrfsTer16
NM_001346900.1:c.2329del NP_001333829.1:p.Asp777ThrfsTer16
NM_001346941.1:c.1687del NP_001333870.1:p.Asp563ThrfsTer16
NM_005228.4:c.2488del NP_005219.2:p.Asp830ThrfsTer16
NM_005228.5:c.2488del MANE Select NP_005219.2:p.Asp830ThrfsTer16
NM_001346897.2:c.2353del NP_001333826.1:p.Asp785ThrfsTer16
NM_001346898.2:c.2488del NP_001333827.1:p.Asp830ThrfsTer16
NM_001346900.2:c.2329del NP_001333829.1:p.Asp777ThrfsTer16
NM_001346941.2:c.1687del NP_001333870.1:p.Asp563ThrfsTer16
NM_001346899.2:c.2353del NP_001333828.1:p.Asp785ThrfsTer16