Canonical Allele Identifier: CA839816833
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1447319008

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55200711_55200712del , CM000669.2:g.55200711_55200712del GRCh38
NC_000007.13:g.55268404_55268405del , CM000669.1:g.55268404_55268405del GRCh37
NC_000007.12:g.55235898_55235899del NCBI36
NG_007726.3:g.186680_186681del , LRG_304:g.186680_186681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2787+298_2787+299del ENSP00000413354.2:n.2787+298_2787+299del
ENST00000700145.1:c.900-4636_900-4635del
ENST00000700146.1:n.690+298_690+299del
ENST00000700147.1:n.139_140del
ENST00000275493.7:c.2946+298_2946+299del MANE Select ENSP00000275493.2:n.2946+298_2946+299del
ENST00000275493.6:c.2946+298_2946+299del ENSP00000275493.2:n.2946+298_2946+299del
ENST00000442591.5:c.*28+27783_*28+27784del ENSP00000410031.1:n.*28+27783_*28+27784del
ENST00000454757.6:c.2811+298_2811+299del ENSP00000395243.3:n.2811+298_2811+299del
ENST00000455089.5:c.2811+298_2811+299del ENSP00000415559.1:n.2811+298_2811+299del
ENST00000485503.1:n.574_575del
NM_005228.3:c.2946+298_2946+299del , LRG_304t1:c.2946+298_2946+299del NP_005219.2:n.2946+298_2946+299del
NM_001346897.1:c.2811+298_2811+299del NP_001333826.1:n.2811+298_2811+299del
NM_001346898.1:c.2946+298_2946+299del NP_001333827.1:n.2946+298_2946+299del
NM_001346899.1:c.2811+298_2811+299del NP_001333828.1:n.2811+298_2811+299del
NM_001346900.1:c.2787+298_2787+299del NP_001333829.1:n.2787+298_2787+299del
NM_001346941.1:c.2145+298_2145+299del NP_001333870.1:n.2145+298_2145+299del
NM_005228.4:c.2946+298_2946+299del NP_005219.2:n.2946+298_2946+299del
NM_005228.5:c.2946+298_2946+299del MANE Select NP_005219.2:n.2946+298_2946+299del
NM_001346897.2:c.2811+298_2811+299del NP_001333826.1:n.2811+298_2811+299del
NM_001346898.2:c.2946+298_2946+299del NP_001333827.1:n.2946+298_2946+299del
NM_001346900.2:c.2787+298_2787+299del NP_001333829.1:n.2787+298_2787+299del
NM_001346941.2:c.2145+298_2145+299del NP_001333870.1:n.2145+298_2145+299del
NM_001346899.2:c.2811+298_2811+299del NP_001333828.1:n.2811+298_2811+299del