Canonical Allele Identifier: CA135872
Community Standard Title: NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis)
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181329_55181330insGCCACG , CM000669.2:g.55181329_55181330insGCCACG GRCh38
NC_000007.13:g.55249022_55249023insGCCACG , CM000669.1:g.55249022_55249023insGCCACG GRCh37
NC_000007.12:g.55216516_55216517insGCCACG NCBI36
NG_007726.3:g.167298_167299insGCCACG , LRG_304:g.167298_167299insGCCACG

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2320_2321insGCCACG (EGFR) MANE Select NP_005219.2:p.His773_Val774insGlyHis
ENST00000275493.7:c.2320_2321insGCCACG (EGFR) MANE Select ENSP00000275493.2:p.His773_Val774insGlyHis
NM_001346897.1:c.2185_2186insGCCACG (EGFR) NP_001333826.1:p.His728_Val729insGlyHis
NM_001346897.2:c.2185_2186insGCCACG (EGFR) NP_001333826.1:p.His728_Val729insGlyHis
NM_001346898.1:c.2320_2321insGCCACG (EGFR) NP_001333827.1:p.His773_Val774insGlyHis
NM_001346898.2:c.2320_2321insGCCACG (EGFR) NP_001333827.1:p.His773_Val774insGlyHis
NM_001346899.1:c.2185_2186insGCCACG (EGFR) NP_001333828.1:p.His728_Val729insGlyHis
NM_001346899.2:c.2185_2186insGCCACG (EGFR) NP_001333828.1:p.His728_Val729insGlyHis
NM_001346900.1:c.2161_2162insGCCACG (EGFR) NP_001333829.1:p.His720_Val721insGlyHis
NM_001346900.2:c.2161_2162insGCCACG (EGFR) NP_001333829.1:p.His720_Val721insGlyHis
NM_001346941.1:c.1519_1520insGCCACG (EGFR) NP_001333870.1:p.His506_Val507insGlyHis
NM_001346941.2:c.1519_1520insGCCACG (EGFR) NP_001333870.1:p.His506_Val507insGlyHis
NM_005228.3:c.2320_2321insGCCACG , LRG_304t1:c.2320_2321insGCCACG (EGFR) NP_005219.2:p.His773_Val774insGlyHis
NM_005228.4:c.2320_2321insGCCACG (EGFR) NP_005219.2:p.His773_Val774insGlyHis
NR_047551.1:n.1246_1247insCCGTGG (EGFR-AS1)
ENST00000275493.6:c.2320_2321insGCCACG (EGFR) ENSP00000275493.2:p.His773_Val774insGlyHis
ENST00000442591.5:c.*28+8401_*28+8402insGCCACG (EGFR) ENSP00000410031.1:n.*28+8401_*28+8402insGCCACG
ENST00000450046.2:c.2161_2162insGCCACG (EGFR) ENSP00000413354.2:p.His720_Val721insGlyHis
ENST00000454757.6:c.2185_2186insGCCACG (EGFR) ENSP00000395243.3:p.His728_Val729insGlyHis
ENST00000455089.5:c.2185_2186insGCCACG (EGFR) ENSP00000415559.1:p.His728_Val729insGlyHis
ENST00000700145.1:c.669_670insGCCACG (EGFR)