Canonical Allele Identifier: CA645561486
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954716

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174771_55174785del , CM000669.2:g.55174771_55174785del GRCh38
NC_000007.13:g.55242464_55242478del , CM000669.1:g.55242464_55242478del GRCh37
NC_000007.12:g.55209958_55209972del NCBI36
NG_007726.3:g.160740_160754del , LRG_304:g.160740_160754del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2075_2089del ENSP00000413354.2:p.Lys692_Ala697delinsTh...
ENST00000700145.1:c.583_597del
ENST00000275493.7:c.2234_2248del MANE Select ENSP00000275493.2:p.Lys745_Ala750delinsTh...
ENST00000275493.6:c.2234_2248del ENSP00000275493.2:p.Lys745_Ala750delinsTh...
ENST00000442591.5:c.*28+1843_*28+1857del ENSP00000410031.1:n.*28+1843_*28+1857del
ENST00000454757.6:c.2099_2113del ENSP00000395243.3:p.Lys700_Ala705delinsTh...
ENST00000455089.5:c.2099_2113del ENSP00000415559.1:p.Lys700_Ala705delinsTh...
NM_005228.3:c.2234_2248del , LRG_304t1:c.2234_2248del NP_005219.2:p.Lys745_Ala750delinsThr
NM_001346897.1:c.2099_2113del NP_001333826.1:p.Lys700_Ala705delinsThr
NM_001346898.1:c.2234_2248del NP_001333827.1:p.Lys745_Ala750delinsThr
NM_001346899.1:c.2099_2113del NP_001333828.1:p.Lys700_Ala705delinsThr
NM_001346900.1:c.2075_2089del NP_001333829.1:p.Lys692_Ala697delinsThr
NM_001346941.1:c.1433_1447del NP_001333870.1:p.Lys478_Ala483delinsThr
NM_005228.4:c.2234_2248del NP_005219.2:p.Lys745_Ala750delinsThr
NM_005228.5:c.2234_2248del MANE Select NP_005219.2:p.Lys745_Ala750delinsThr
NM_001346897.2:c.2099_2113del NP_001333826.1:p.Lys700_Ala705delinsThr
NM_001346898.2:c.2234_2248del NP_001333827.1:p.Lys745_Ala750delinsThr
NM_001346900.2:c.2075_2089del NP_001333829.1:p.Lys692_Ala697delinsThr
NM_001346941.2:c.1433_1447del NP_001333870.1:p.Lys478_Ala483delinsThr
NM_001346899.2:c.2099_2113del NP_001333828.1:p.Lys700_Ala705delinsThr