Canonical Allele Identifier: CA2840227295

Gene: EGFR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201297dup , CM000669.2:g.55201297dup	GRCh38
NC_000007.13:g.55268990dup , CM000669.1:g.55268990dup	GRCh37
NC_000007.12:g.55236484dup	NCBI36
NG_007726.3:g.187266dup , LRG_304:g.187266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2897dup	ENSP00000413354.2:p.Gln967ThrfsTer?
ENST00000700145.1:c.900-4050dup
ENST00000700146.1:n.800dup
ENST00000700147.1:n.725dup
ENST00000275493.7:c.3056dup MANE Select	ENSP00000275493.2:p.Gln1020ThrfsTer?
ENST00000275493.6:c.3056dup	ENSP00000275493.2:p.Gln1020ThrfsTer?
ENST00000442591.5:c.*28+28369dup	ENSP00000410031.1:n.*28+28369dup
ENST00000454757.6:c.2921dup	ENSP00000395243.3:p.Gln975ThrfsTer?
ENST00000455089.5:c.2921dup	ENSP00000415559.1:p.Gln975ThrfsTer?
NM_005228.3:c.3056dup , LRG_304t1:c.3056dup	NP_005219.2:p.Gln1020ThrfsTer?
NM_001346897.1:c.2921dup	NP_001333826.1:p.Gln975ThrfsTer?
NM_001346898.1:c.3056dup	NP_001333827.1:p.Gln1020ThrfsTer?
NM_001346899.1:c.2921dup	NP_001333828.1:p.Gln975ThrfsTer?
NM_001346900.1:c.2897dup	NP_001333829.1:p.Gln967ThrfsTer?
NM_001346941.1:c.2255dup	NP_001333870.1:p.Gln753ThrfsTer?
NM_005228.4:c.3056dup	NP_005219.2:p.Gln1020ThrfsTer?
NM_005228.5:c.3056dup MANE Select	NP_005219.2:p.Gln1020ThrfsTer?
NM_001346897.2:c.2921dup	NP_001333826.1:p.Gln975ThrfsTer?
NM_001346898.2:c.3056dup	NP_001333827.1:p.Gln1020ThrfsTer?
NM_001346900.2:c.2897dup	NP_001333829.1:p.Gln967ThrfsTer?
NM_001346941.2:c.2255dup	NP_001333870.1:p.Gln753ThrfsTer?
NM_001346899.2:c.2921dup	NP_001333828.1:p.Gln975ThrfsTer?