Canonical Allele Identifier: CA126716

Gene: EGFR

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174776_55174788delinsC , CM000669.2:g.55174776_55174788delinsC	GRCh38
NC_000007.13:g.55242469_55242481delinsC , CM000669.1:g.55242469_55242481delinsC	GRCh37
NC_000007.12:g.55209963_55209975delinsC	NCBI36
NG_007726.3:g.160745_160757delinsC , LRG_304:g.160745_160757delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2080_2092delinsC	ENSP00000413354.2:p.Leu694_Thr698delinsPro
ENST00000700145.1:c.588_600delinsC
ENST00000275493.7:c.2239_2251delinsC MANE Select	ENSP00000275493.2:p.Leu747_Thr751delinsPro
ENST00000275493.6:c.2239_2251delinsC	ENSP00000275493.2:p.Leu747_Thr751delinsPro
ENST00000442591.5:c.*28+1848_*28+1860delinsC	ENSP00000410031.1:n.*28+1848_*28+1860delinsC
ENST00000454757.6:c.2104_2116delinsC	ENSP00000395243.3:p.Leu702_Thr706delinsPro
ENST00000455089.5:c.2104_2116delinsC	ENSP00000415559.1:p.Leu702_Thr706delinsPro
NM_005228.3:c.2239_2251delinsC , LRG_304t1:c.2239_2251delinsC	NP_005219.2:p.Leu747_Thr751delinsPro
NM_001346897.1:c.2104_2116delinsC	NP_001333826.1:p.Leu702_Thr706delinsPro
NM_001346898.1:c.2239_2251delinsC	NP_001333827.1:p.Leu747_Thr751delinsPro
NM_001346899.1:c.2104_2116delinsC	NP_001333828.1:p.Leu702_Thr706delinsPro
NM_001346900.1:c.2080_2092delinsC	NP_001333829.1:p.Leu694_Thr698delinsPro
NM_001346941.1:c.1438_1450delinsC	NP_001333870.1:p.Leu480_Thr484delinsPro
NM_005228.4:c.2239_2251delinsC	NP_005219.2:p.Leu747_Thr751delinsPro
NM_005228.5:c.2239_2251delinsC MANE Select	NP_005219.2:p.Leu747_Thr751delinsPro
NM_001346897.2:c.2104_2116delinsC	NP_001333826.1:p.Leu702_Thr706delinsPro
NM_001346898.2:c.2239_2251delinsC	NP_001333827.1:p.Leu747_Thr751delinsPro
NM_001346900.2:c.2080_2092delinsC	NP_001333829.1:p.Leu694_Thr698delinsPro
NM_001346941.2:c.1438_1450delinsC	NP_001333870.1:p.Leu480_Thr484delinsPro
NM_001346899.2:c.2104_2116delinsC	NP_001333828.1:p.Leu702_Thr706delinsPro