Canonical Allele Identifier: CA645561572
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2128958336
COSMIC: COSM28638

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181316_55181317insATGGCCAGCGTGGAC , CM000669.2:g.55181316_55181317insATGGCCAGCGTGGAC GRCh38
NC_000007.13:g.55249009_55249010insATGGCCAGCGTGGAC , CM000669.1:g.55249009_55249010insATGGCCAGCGTGGAC GRCh37
NC_000007.12:g.55216503_55216504insATGGCCAGCGTGGAC NCBI36
NG_007726.3:g.167285_167286insATGGCCAGCGTGGAC , LRG_304:g.167285_167286insATGGCCAGCGTGGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2148_2149insATGGCCAGCGTGGAC (EGFR) ENSP00000413354.2:p.Val716_Asp717insMetAl...
ENST00000700145.1:c.656_657insATGGCCAGCGTGGAC (EGFR)
ENST00000275493.7:c.2307_2308insATGGCCAGCGTGGAC (EGFR) MANE Select ENSP00000275493.2:p.Val769_Asp770insMetAl...
ENST00000275493.6:c.2307_2308insATGGCCAGCGTGGAC (EGFR) ENSP00000275493.2:p.Val769_Asp770insMetAl...
ENST00000442591.5:c.*28+8388_*28+8389insATGGCCAGCGTGGAC (EGFR) ENSP00000410031.1:n.*28+8388_*28+8389insA...
ENST00000454757.6:c.2172_2173insATGGCCAGCGTGGAC (EGFR) ENSP00000395243.3:p.Val724_Asp725insMetAl...
ENST00000455089.5:c.2172_2173insATGGCCAGCGTGGAC (EGFR) ENSP00000415559.1:p.Val724_Asp725insMetAl...
NM_005228.3:c.2307_2308insATGGCCAGCGTGGAC , LRG_304t1:c.2307_2308insATGGCCAGCGTGGAC (EGFR) NP_005219.2:p.Val769_Asp770insMetAlaSerVa...
NR_047551.1:n.1254_1255insGTCCACGCTGGCCAT (EGFR-AS1)
NM_001346897.1:c.2172_2173insATGGCCAGCGTGGAC (EGFR) NP_001333826.1:p.Val724_Asp725insMetAlaSe...
NM_001346898.1:c.2307_2308insATGGCCAGCGTGGAC (EGFR) NP_001333827.1:p.Val769_Asp770insMetAlaSe...
NM_001346899.1:c.2172_2173insATGGCCAGCGTGGAC (EGFR) NP_001333828.1:p.Val724_Asp725insMetAlaSe...
NM_001346900.1:c.2148_2149insATGGCCAGCGTGGAC (EGFR) NP_001333829.1:p.Val716_Asp717insMetAlaSe...
NM_001346941.1:c.1506_1507insATGGCCAGCGTGGAC (EGFR) NP_001333870.1:p.Val502_Asp503insMetAlaSe...
NM_005228.4:c.2307_2308insATGGCCAGCGTGGAC (EGFR) NP_005219.2:p.Val769_Asp770insMetAlaSerVa...
NM_005228.5:c.2307_2308insATGGCCAGCGTGGAC (EGFR) MANE Select NP_005219.2:p.Val769_Asp770insMetAlaSerVa...
NM_001346897.2:c.2172_2173insATGGCCAGCGTGGAC (EGFR) NP_001333826.1:p.Val724_Asp725insMetAlaSe...
NM_001346898.2:c.2307_2308insATGGCCAGCGTGGAC (EGFR) NP_001333827.1:p.Val769_Asp770insMetAlaSe...
NM_001346900.2:c.2148_2149insATGGCCAGCGTGGAC (EGFR) NP_001333829.1:p.Val716_Asp717insMetAlaSe...
NM_001346941.2:c.1506_1507insATGGCCAGCGTGGAC (EGFR) NP_001333870.1:p.Val502_Asp503insMetAlaSe...
NM_001346899.2:c.2172_2173insATGGCCAGCGTGGAC (EGFR) NP_001333828.1:p.Val724_Asp725insMetAlaSe...