Canonical Allele Identifier: CA176020
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 163379
ClinVar RCV Id: RCV000150628
dbSNP Id: rs1554353237

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191753_55191840del , CM000669.2:g.55191753_55191840del GRCh38
NC_000007.13:g.55259446_55259533del , CM000669.1:g.55259446_55259533del GRCh37
NC_000007.12:g.55226940_55227027del NCBI36
NG_007726.3:g.177722_177809del , LRG_304:g.177722_177809del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2504_2591del MANE Select ENSP00000275493.2:p.His835ArgfsTer?
ENST00000275493.6:c.2504_2591del ENSP00000275493.2:p.His835ArgfsTer?
ENST00000442591.5:c.*28+18825_*28+18912del ENSP00000410031.1:n.*28+18825_*28+18912de...
ENST00000454757.6:c.2369_2456del ENSP00000395243.3:p.His790ArgfsTer?
ENST00000455089.5:c.2369_2456del ENSP00000415559.1:p.His790ArgfsTer?
NM_005228.3:c.2504_2591del , LRG_304t1:c.2504_2591del NP_005219.2:p.His835ArgfsTer?
NM_001346897.1:c.2369_2456del NP_001333826.1:p.His790ArgfsTer?
NM_001346898.1:c.2504_2591del NP_001333827.1:p.His835ArgfsTer?
NM_001346899.1:c.2369_2456del NP_001333828.1:p.His790ArgfsTer?
NM_001346900.1:c.2345_2432del NP_001333829.1:p.His782ArgfsTer?
NM_001346941.1:c.1703_1790del NP_001333870.1:p.His568ArgfsTer?
NM_005228.4:c.2504_2591del NP_005219.2:p.His835ArgfsTer?
NM_005228.5:c.2504_2591del MANE Select NP_005219.2:p.His835ArgfsTer?
NM_001346897.2:c.2369_2456del NP_001333826.1:p.His790ArgfsTer?
NM_001346898.2:c.2504_2591del NP_001333827.1:p.His835ArgfsTer?
NM_001346900.2:c.2345_2432del NP_001333829.1:p.His782ArgfsTer?
NM_001346941.2:c.1703_1790del NP_001333870.1:p.His568ArgfsTer?
NM_001346899.2:c.2369_2456del NP_001333828.1:p.His790ArgfsTer?