Canonical Allele Identifier: CA1708905134
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181316_55181319delinsGGAC , CM000669.2:g.55181316_55181319delinsGGAC GRCh38
NC_000007.13:g.55249009_55249012delinsGGAC , CM000669.1:g.55249009_55249012delinsGGAC GRCh37
NC_000007.12:g.55216503_55216506delinsGGAC NCBI36
NG_007726.3:g.167285_167288delinsGGAC , LRG_304:g.167285_167288delinsGGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2148_2151delinsGGAC (EGFR) ENSP00000413354.2:p.Val716=
ENST00000700145.1:c.656_659delinsGGAC (EGFR)
ENST00000275493.7:c.2307_2310delinsGGAC (EGFR) MANE Select ENSP00000275493.2:p.Val769=
ENST00000275493.6:c.2307_2310delinsGGAC (EGFR) ENSP00000275493.2:p.Val769=
ENST00000442591.5:c.*28+8388_*28+8391delinsGGAC (EGFR) ENSP00000410031.1:n.*28+8388_*28+8391deli...
ENST00000454757.6:c.2172_2175delinsGGAC (EGFR) ENSP00000395243.3:p.Val724=
ENST00000455089.5:c.2172_2175delinsGGAC (EGFR) ENSP00000415559.1:p.Val724=
NM_005228.3:c.2307_2310delinsGGAC , LRG_304t1:c.2307_2310delinsGGAC (EGFR) NP_005219.2:p.Val769=
NR_047551.1:n.1252_1255delinsGTCC (EGFR-AS1)
NM_001346897.1:c.2172_2175delinsGGAC (EGFR) NP_001333826.1:p.Val724=
NM_001346898.1:c.2307_2310delinsGGAC (EGFR) NP_001333827.1:p.Val769=
NM_001346899.1:c.2172_2175delinsGGAC (EGFR) NP_001333828.1:p.Val724=
NM_001346900.1:c.2148_2151delinsGGAC (EGFR) NP_001333829.1:p.Val716=
NM_001346941.1:c.1506_1509delinsGGAC (EGFR) NP_001333870.1:p.Val502=
NM_005228.4:c.2307_2310delinsGGAC (EGFR) NP_005219.2:p.Val769=
NM_005228.5:c.2307_2310delinsGGAC (EGFR) MANE Select NP_005219.2:p.Val769=
NM_001346897.2:c.2172_2175delinsGGAC (EGFR) NP_001333826.1:p.Val724=
NM_001346898.2:c.2307_2310delinsGGAC (EGFR) NP_001333827.1:p.Val769=
NM_001346900.2:c.2148_2151delinsGGAC (EGFR) NP_001333829.1:p.Val716=
NM_001346941.2:c.1506_1509delinsGGAC (EGFR) NP_001333870.1:p.Val502=
NM_001346899.2:c.2172_2175delinsGGAC (EGFR) NP_001333828.1:p.Val724=