Canonical Allele Identifier: CA2682856018

Gene: EGFR

Linked Data

• gnomAD v4: 7-55200608-CCCAACTCCATCTCCCCCTCCCCGTCTGAACTCTCCTCTGGTGCTCGTCCTCACTGTCCGGCTAGCCAAAGCCTCAGCTGGGTCTAAGAGAGAAGCATGGTCTATTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55200609_55200715del , CM000669.2:g.55200609_55200715del	GRCh38
NC_000007.13:g.55268302_55268408del , CM000669.1:g.55268302_55268408del	GRCh37
NC_000007.12:g.55235796_55235902del	NCBI36
NG_007726.3:g.186578_186684del , LRG_304:g.186578_186684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2787+196_2787+302del	ENSP00000413354.2:n.2787+196_2787+302del
ENST00000700145.1:c.900-4738_900-4632del
ENST00000700146.1:n.690+196_690+302del
ENST00000700147.1:n.37_143del
ENST00000275493.7:c.2946+196_2946+302del MANE Select	ENSP00000275493.2:n.2946+196_2946+302del
ENST00000275493.6:c.2946+196_2946+302del	ENSP00000275493.2:n.2946+196_2946+302del
ENST00000442591.5:c.*28+27681_*28+27787del	ENSP00000410031.1:n.*28+27681_*28+27787del
ENST00000454757.6:c.2811+196_2811+302del	ENSP00000395243.3:n.2811+196_2811+302del
ENST00000455089.5:c.2811+196_2811+302del	ENSP00000415559.1:n.2811+196_2811+302del
ENST00000485503.1:n.472_578del
NM_005228.3:c.2946+196_2946+302del , LRG_304t1:c.2946+196_2946+302del	NP_005219.2:n.2946+196_2946+302del
NM_001346897.1:c.2811+196_2811+302del	NP_001333826.1:n.2811+196_2811+302del
NM_001346898.1:c.2946+196_2946+302del	NP_001333827.1:n.2946+196_2946+302del
NM_001346899.1:c.2811+196_2811+302del	NP_001333828.1:n.2811+196_2811+302del
NM_001346900.1:c.2787+196_2787+302del	NP_001333829.1:n.2787+196_2787+302del
NM_001346941.1:c.2145+196_2145+302del	NP_001333870.1:n.2145+196_2145+302del
NM_005228.4:c.2946+196_2946+302del	NP_005219.2:n.2946+196_2946+302del
NM_005228.5:c.2946+196_2946+302del MANE Select	NP_005219.2:n.2946+196_2946+302del
NM_001346897.2:c.2811+196_2811+302del	NP_001333826.1:n.2811+196_2811+302del
NM_001346898.2:c.2946+196_2946+302del	NP_001333827.1:n.2946+196_2946+302del
NM_001346900.2:c.2787+196_2787+302del	NP_001333829.1:n.2787+196_2787+302del
NM_001346941.2:c.2145+196_2145+302del	NP_001333870.1:n.2145+196_2145+302del
NM_001346899.2:c.2811+196_2811+302del	NP_001333828.1:n.2811+196_2811+302del