Canonical Allele Identifier: CA16602836

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376398
• ClinVar RCV Id: RCV000417429 ; RCV000429429 ; RCV000435251
• dbSNP Id: rs1057519887
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55154128_55154129delinsAT , CM000669.2:g.55154128_55154129delinsAT	GRCh38
NC_000007.13:g.55221821_55221822delinsAT , CM000669.1:g.55221821_55221822delinsAT	GRCh37
NC_000007.12:g.55189315_55189316delinsAT	NCBI36
NG_007726.3:g.140097_140098delinsAT , LRG_304:g.140097_140098delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.706_707delinsAT	ENSP00000413354.2:p.Ala236Ile
ENST00000700144.1:n.1055_1056delinsAT
ENST00000344576.7:c.865_866delinsAT	ENSP00000345973.2:p.Ala289Ile
ENST00000275493.7:c.865_866delinsAT MANE Select	ENSP00000275493.2:p.Ala289Ile
ENST00000275493.6:c.865_866delinsAT	ENSP00000275493.2:p.Ala289Ile
ENST00000342916.7:c.865_866delinsAT	ENSP00000342376.3:p.Ala289Ile
ENST00000344576.6:c.865_866delinsAT	ENSP00000345973.2:p.Ala289Ile
ENST00000420316.6:c.865_866delinsAT	ENSP00000413843.2:p.Ala289Ile
ENST00000442591.5:c.865_866delinsAT	ENSP00000410031.1:p.Ala289Ile
ENST00000454757.6:c.730_731delinsAT	ENSP00000395243.3:p.Ala244Ile
ENST00000455089.5:c.730_731delinsAT	ENSP00000415559.1:p.Ala244Ile
NM_005228.3:c.865_866delinsAT , LRG_304t1:c.865_866delinsAT	NP_005219.2:p.Ala289Ile
NM_201282.1:c.865_866delinsAT	NP_958439.1:p.Ala289Ile
NM_201283.1:c.865_866delinsAT	NP_958440.1:p.Ala289Ile
NM_201284.1:c.865_866delinsAT	NP_958441.1:p.Ala289Ile
NM_001346897.1:c.730_731delinsAT	NP_001333826.1:p.Ala244Ile
NM_001346898.1:c.865_866delinsAT	NP_001333827.1:p.Ala289Ile
NM_001346899.1:c.730_731delinsAT	NP_001333828.1:p.Ala244Ile
NM_001346900.1:c.706_707delinsAT	NP_001333829.1:p.Ala236Ile
NM_001346941.1:c.89-1702_89-1701delinsAT	NP_001333870.1:n.89-1702_89-1701delinsAT
NM_005228.4:c.865_866delinsAT	NP_005219.2:p.Ala289Ile
NM_005228.5:c.865_866delinsAT MANE Select	NP_005219.2:p.Ala289Ile
NM_001346897.2:c.730_731delinsAT	NP_001333826.1:p.Ala244Ile
NM_001346898.2:c.865_866delinsAT	NP_001333827.1:p.Ala289Ile
NM_001346900.2:c.706_707delinsAT	NP_001333829.1:p.Ala236Ile
NM_001346941.2:c.89-1702_89-1701delinsAT	NP_001333870.1:n.89-1702_89-1701delinsAT
NM_201282.2:c.865_866delinsAT	NP_958439.1:p.Ala289Ile
NM_201284.2:c.865_866delinsAT	NP_958441.1:p.Ala289Ile
NM_001346899.2:c.730_731delinsAT	NP_001333828.1:p.Ala244Ile
NM_201283.2:c.865_866delinsAT	NP_958440.1:p.Ala289Ile