Canonical Allele Identifier: CA645561484
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954700
COSMIC: COSM221565

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174769_55174786del , CM000669.2:g.55174769_55174786del GRCh38
NC_000007.13:g.55242462_55242479del , CM000669.1:g.55242462_55242479del GRCh37
NC_000007.12:g.55209956_55209973del NCBI36
NG_007726.3:g.160738_160755del , LRG_304:g.160738_160755del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2073_2090del ENSP00000413354.2:p.Lys692_Ala697del
ENST00000700145.1:c.581_598del
ENST00000275493.7:c.2232_2249del MANE Select ENSP00000275493.2:p.Lys745_Ala750del
ENST00000275493.6:c.2232_2249del ENSP00000275493.2:p.Lys745_Ala750del
ENST00000442591.5:c.*28+1841_*28+1858del ENSP00000410031.1:n.*28+1841_*28+1858del
ENST00000454757.6:c.2097_2114del ENSP00000395243.3:p.Lys700_Ala705del
ENST00000455089.5:c.2097_2114del ENSP00000415559.1:p.Lys700_Ala705del
NM_005228.3:c.2232_2249del , LRG_304t1:c.2232_2249del NP_005219.2:p.Lys745_Ala750del
NM_001346897.1:c.2097_2114del NP_001333826.1:p.Lys700_Ala705del
NM_001346898.1:c.2232_2249del NP_001333827.1:p.Lys745_Ala750del
NM_001346899.1:c.2097_2114del NP_001333828.1:p.Lys700_Ala705del
NM_001346900.1:c.2073_2090del NP_001333829.1:p.Lys692_Ala697del
NM_001346941.1:c.1431_1448del NP_001333870.1:p.Lys478_Ala483del
NM_005228.4:c.2232_2249del NP_005219.2:p.Lys745_Ala750del
NM_005228.5:c.2232_2249del MANE Select NP_005219.2:p.Lys745_Ala750del
NM_001346897.2:c.2097_2114del NP_001333826.1:p.Lys700_Ala705del
NM_001346898.2:c.2232_2249del NP_001333827.1:p.Lys745_Ala750del
NM_001346900.2:c.2073_2090del NP_001333829.1:p.Lys692_Ala697del
NM_001346941.2:c.1431_1448del NP_001333870.1:p.Lys478_Ala483del
NM_001346899.2:c.2097_2114del NP_001333828.1:p.Lys700_Ala705del