Canonical Allele Identifier: CA1708922465

Gene: EGFR

Linked Data

• dbSNP Id: rs1787404598

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191749del , CM000669.2:g.55191749del	GRCh38
NC_000007.13:g.55259442del , CM000669.1:g.55259442del	GRCh37
NC_000007.12:g.55226936del	NCBI36
NG_007726.3:g.177718del , LRG_304:g.177718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2341del	ENSP00000413354.2:p.Val781CysfsTer12
ENST00000700145.1:c.849del
ENST00000275493.7:c.2500del MANE Select	ENSP00000275493.2:p.Val834CysfsTer12
ENST00000275493.6:c.2500del	ENSP00000275493.2:p.Val834CysfsTer12
ENST00000442591.5:c.*28+18821del	ENSP00000410031.1:n.*28+18821del
ENST00000454757.6:c.2365del	ENSP00000395243.3:p.Val789CysfsTer12
ENST00000455089.5:c.2365del	ENSP00000415559.1:p.Val789CysfsTer12
NM_005228.3:c.2500del , LRG_304t1:c.2500del	NP_005219.2:p.Val834CysfsTer12
NM_001346897.1:c.2365del	NP_001333826.1:p.Val789CysfsTer12
NM_001346898.1:c.2500del	NP_001333827.1:p.Val834CysfsTer12
NM_001346899.1:c.2365del	NP_001333828.1:p.Val789CysfsTer12
NM_001346900.1:c.2341del	NP_001333829.1:p.Val781CysfsTer12
NM_001346941.1:c.1699del	NP_001333870.1:p.Val567CysfsTer12
NM_005228.4:c.2500del	NP_005219.2:p.Val834CysfsTer12
NM_005228.5:c.2500del MANE Select	NP_005219.2:p.Val834CysfsTer12
NM_001346897.2:c.2365del	NP_001333826.1:p.Val789CysfsTer12
NM_001346898.2:c.2500del	NP_001333827.1:p.Val834CysfsTer12
NM_001346900.2:c.2341del	NP_001333829.1:p.Val781CysfsTer12
NM_001346941.2:c.1699del	NP_001333870.1:p.Val567CysfsTer12
NM_001346899.2:c.2365del	NP_001333828.1:p.Val789CysfsTer12