Canonical Allele Identifier: CA135869

Gene: EGFR EGFR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181326_55181331dup , CM000669.2:g.55181326_55181331dup	GRCh38
NC_000007.13:g.55249019_55249024dup , CM000669.1:g.55249019_55249024dup	GRCh37
NC_000007.12:g.55216513_55216518dup	NCBI36
NG_007726.3:g.167295_167300dup , LRG_304:g.167295_167300dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.2317_2322dup (EGFR) MANE Select	NP_005219.2:p.Val774_Cys775insHisVal
ENST00000275493.7:c.2317_2322dup (EGFR) MANE Select	ENSP00000275493.2:p.Val774_Cys775insHisVal
NM_001346897.1:c.2182_2187dup (EGFR)	NP_001333826.1:p.Val729_Cys730insHisVal
NM_001346897.2:c.2182_2187dup (EGFR)	NP_001333826.1:p.Val729_Cys730insHisVal
NM_001346898.1:c.2317_2322dup (EGFR)	NP_001333827.1:p.Val774_Cys775insHisVal
NM_001346898.2:c.2317_2322dup (EGFR)	NP_001333827.1:p.Val774_Cys775insHisVal
NM_001346899.1:c.2182_2187dup (EGFR)	NP_001333828.1:p.Val729_Cys730insHisVal
NM_001346899.2:c.2182_2187dup (EGFR)	NP_001333828.1:p.Val729_Cys730insHisVal
NM_001346900.1:c.2158_2163dup (EGFR)	NP_001333829.1:p.Val721_Cys722insHisVal
NM_001346900.2:c.2158_2163dup (EGFR)	NP_001333829.1:p.Val721_Cys722insHisVal
NM_001346941.1:c.1516_1521dup (EGFR)	NP_001333870.1:p.Val507_Cys508insHisVal
NM_001346941.2:c.1516_1521dup (EGFR)	NP_001333870.1:p.Val507_Cys508insHisVal
NM_005228.3:c.2317_2322dup , LRG_304t1:c.2317_2322dup (EGFR)	NP_005219.2:p.Val774_Cys775insHisVal
NM_005228.4:c.2317_2322dup (EGFR)	NP_005219.2:p.Val774_Cys775insHisVal
NR_047551.1:n.1240_1245dup (EGFR-AS1)
ENST00000275493.6:c.2317_2322dup (EGFR)	ENSP00000275493.2:p.Val774_Cys775insHisVal
ENST00000442591.5:c.*28+8398_*28+8403dup (EGFR)	ENSP00000410031.1:n.*28+8398_*28+8403dup
ENST00000450046.2:c.2158_2163dup (EGFR)	ENSP00000413354.2:p.Val721_Cys722insHisVal
ENST00000454757.6:c.2182_2187dup (EGFR)	ENSP00000395243.3:p.Val729_Cys730insHisVal
ENST00000455089.5:c.2182_2187dup (EGFR)	ENSP00000415559.1:p.Val729_Cys730insHisVal
ENST00000700145.1:c.666_671dup (EGFR)