Canonical Allele Identifier: CA2580077251

Gene: EGFR

Linked Data

• ClinVar Variation Id: 2032844
• ClinVar RCV Id: RCV002881477

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55146673_55146692del , CM000669.2:g.55146673_55146692del	GRCh38
NC_000007.13:g.55214366_55214385del , CM000669.1:g.55214366_55214385del	GRCh37
NC_000007.12:g.55181860_55181879del	NCBI36
NG_007726.3:g.132642_132661del , LRG_304:g.132642_132661del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.333_352del	ENSP00000413354.2:p.Trp111Ter
ENST00000700144.1:n.682_701del
ENST00000344576.7:c.492_511del	ENSP00000345973.2:p.Trp164Ter
ENST00000275493.7:c.492_511del MANE Select	ENSP00000275493.2:p.Trp164Ter
ENST00000275493.6:c.492_511del	ENSP00000275493.2:p.Trp164Ter
ENST00000342916.7:c.492_511del	ENSP00000342376.3:p.Trp164Ter
ENST00000344576.6:c.492_511del	ENSP00000345973.2:p.Trp164Ter
ENST00000420316.6:c.492_511del	ENSP00000413843.2:p.Trp164Ter
ENST00000442591.5:c.492_511del	ENSP00000410031.1:p.Trp164Ter
ENST00000450046.1:c.333_352del	ENSP00000413354.1:p.Trp111Ter
ENST00000454757.6:c.424+3185_424+3204del	ENSP00000395243.3:n.424+3185_424+3204del
ENST00000455089.5:c.424+3185_424+3204del	ENSP00000415559.1:n.424+3185_424+3204del
NM_005228.3:c.492_511del , LRG_304t1:c.492_511del	NP_005219.2:p.Trp164Ter
NM_201282.1:c.492_511del	NP_958439.1:p.Trp164Ter
NM_201283.1:c.492_511del	NP_958440.1:p.Trp164Ter
NM_201284.1:c.492_511del	NP_958441.1:p.Trp164Ter
NM_001346897.1:c.424+3185_424+3204del	NP_001333826.1:n.424+3185_424+3204del
NM_001346898.1:c.492_511del	NP_001333827.1:p.Trp164Ter
NM_001346899.1:c.424+3185_424+3204del	NP_001333828.1:n.424+3185_424+3204del
NM_001346900.1:c.333_352del	NP_001333829.1:p.Trp111Ter
NM_001346941.1:c.89-9157_89-9138del	NP_001333870.1:n.89-9157_89-9138del
NM_005228.4:c.492_511del	NP_005219.2:p.Trp164Ter
NM_005228.5:c.492_511del MANE Select	NP_005219.2:p.Trp164Ter
NM_001346897.2:c.424+3185_424+3204del	NP_001333826.1:n.424+3185_424+3204del
NM_001346898.2:c.492_511del	NP_001333827.1:p.Trp164Ter
NM_001346900.2:c.333_352del	NP_001333829.1:p.Trp111Ter
NM_001346941.2:c.89-9157_89-9138del	NP_001333870.1:n.89-9157_89-9138del
NM_201282.2:c.492_511del	NP_958439.1:p.Trp164Ter
NM_201284.2:c.492_511del	NP_958441.1:p.Trp164Ter
NM_001346899.2:c.424+3185_424+3204del	NP_001333828.1:n.424+3185_424+3204del
NM_201283.2:c.492_511del	NP_958440.1:p.Trp164Ter