Canonical Allele Identifier: CA2714933104
Community Standard Title: NM_005228.5(EGFR):c.2314_2315insGCCACGTGTGCC (p.Asn771_Pro772insArgHisValCys)
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181323_55181324insGCCACGTGTGCC , CM000669.2:g.55181323_55181324insGCCACGTGTGCC GRCh38
NC_000007.13:g.55249016_55249017insGCCACGTGTGCC , CM000669.1:g.55249016_55249017insGCCACGTGTGCC GRCh37
NC_000007.12:g.55216510_55216511insGCCACGTGTGCC NCBI36
NG_007726.3:g.167292_167293insGCCACGTGTGCC , LRG_304:g.167292_167293insGCCACGTGTGCC

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2314_2315insGCCACGTGTGCC (EGFR) MANE Select NP_005219.2:p.Asn771_Pro772insArgHisValCys
ENST00000275493.7:c.2314_2315insGCCACGTGTGCC (EGFR) MANE Select ENSP00000275493.2:p.Asn771_Pro772insArgHisValCys
NM_001346897.1:c.2179_2180insGCCACGTGTGCC (EGFR) NP_001333826.1:p.Asn726_Pro727insArgHisValCys
NM_001346897.2:c.2179_2180insGCCACGTGTGCC (EGFR) NP_001333826.1:p.Asn726_Pro727insArgHisValCys
NM_001346898.1:c.2314_2315insGCCACGTGTGCC (EGFR) NP_001333827.1:p.Asn771_Pro772insArgHisValCys
NM_001346898.2:c.2314_2315insGCCACGTGTGCC (EGFR) NP_001333827.1:p.Asn771_Pro772insArgHisValCys
NM_001346899.1:c.2179_2180insGCCACGTGTGCC (EGFR) NP_001333828.1:p.Asn726_Pro727insArgHisValCys
NM_001346899.2:c.2179_2180insGCCACGTGTGCC (EGFR) NP_001333828.1:p.Asn726_Pro727insArgHisValCys
NM_001346900.1:c.2155_2156insGCCACGTGTGCC (EGFR) NP_001333829.1:p.Asn718_Pro719insArgHisValCys
NM_001346900.2:c.2155_2156insGCCACGTGTGCC (EGFR) NP_001333829.1:p.Asn718_Pro719insArgHisValCys
NM_001346941.1:c.1513_1514insGCCACGTGTGCC (EGFR) NP_001333870.1:p.Asn504_Pro505insArgHisValCys
NM_001346941.2:c.1513_1514insGCCACGTGTGCC (EGFR) NP_001333870.1:p.Asn504_Pro505insArgHisValCys
NM_005228.3:c.2314_2315insGCCACGTGTGCC , LRG_304t1:c.2314_2315insGCCACGTGTGCC (EGFR) NP_005219.2:p.Asn771_Pro772insArgHisValCys
NM_005228.4:c.2314_2315insGCCACGTGTGCC (EGFR) NP_005219.2:p.Asn771_Pro772insArgHisValCys
NR_047551.1:n.1249_1250insCACACGTGGCGG (EGFR-AS1)
ENST00000275493.6:c.2314_2315insGCCACGTGTGCC (EGFR) ENSP00000275493.2:p.Asn771_Pro772insArgHisValCys
ENST00000442591.5:c.*28+8395_*28+8396insGCCACGTGTGCC (EGFR) ENSP00000410031.1:n.*28+8395_*28+8396insGCCACGTGTGCC
ENST00000450046.2:c.2155_2156insGCCACGTGTGCC (EGFR) ENSP00000413354.2:p.Asn718_Pro719insArgHisValCys
ENST00000454757.6:c.2179_2180insGCCACGTGTGCC (EGFR) ENSP00000395243.3:p.Asn726_Pro727insArgHisValCys
ENST00000455089.5:c.2179_2180insGCCACGTGTGCC (EGFR) ENSP00000415559.1:p.Asn726_Pro727insArgHisValCys
ENST00000700145.1:c.663_664insGCCACGTGTGCC (EGFR)