Canonical Allele Identifier: CA126710

Gene: EGFR

Linked Data

• ClinVar Variation Id: 16608
• ClinVar RCV Id: RCV000018082 ; RCV000154194 ; RCV002464067
• dbSNP Id: rs121913438
• COSMIC: COSM12370 ; COSM133197
• MyVariant Identifiers: chr7:g.55242470_55242487del (hg19) ; chr7:g.55174777_55174794del (hg38)
• PubMed: PMID:15118073 ; PMID:15118125 ; PMID:15728811
• CIViC: CA126710

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174777_55174794del , CM000669.2:g.55174777_55174794del	GRCh38
NC_000007.13:g.55242470_55242487del , CM000669.1:g.55242470_55242487del	GRCh37
NC_000007.12:g.55209964_55209981del	NCBI36
NG_007726.3:g.160746_160763del , LRG_304:g.160746_160763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2081_2098del	ENSP00000413354.2:p.Leu694_Pro700delinsSe...
ENST00000700145.1:c.589_606del
ENST00000275493.7:c.2240_2257del MANE Select	ENSP00000275493.2:p.Leu747_Pro753delinsSe...
ENST00000275493.6:c.2240_2257del	ENSP00000275493.2:p.Leu747_Pro753delinsSe...
ENST00000442591.5:c.*28+1849_*28+1866del	ENSP00000410031.1:n.*28+1849_*28+1866del
ENST00000454757.6:c.2105_2122del	ENSP00000395243.3:p.Leu702_Pro708delinsSe...
ENST00000455089.5:c.2105_2122del	ENSP00000415559.1:p.Leu702_Pro708delinsSe...
NM_005228.3:c.2240_2257del , LRG_304t1:c.2240_2257del	NP_005219.2:p.Leu747_Pro753delinsSer
NM_001346897.1:c.2105_2122del	NP_001333826.1:p.Leu702_Pro708delinsSer
NM_001346898.1:c.2240_2257del	NP_001333827.1:p.Leu747_Pro753delinsSer
NM_001346899.1:c.2105_2122del	NP_001333828.1:p.Leu702_Pro708delinsSer
NM_001346900.1:c.2081_2098del	NP_001333829.1:p.Leu694_Pro700delinsSer
NM_001346941.1:c.1439_1456del	NP_001333870.1:p.Leu480_Pro486delinsSer
NM_005228.4:c.2240_2257del	NP_005219.2:p.Leu747_Pro753delinsSer
NM_005228.5:c.2240_2257del MANE Select	NP_005219.2:p.Leu747_Pro753delinsSer
NM_001346897.2:c.2105_2122del	NP_001333826.1:p.Leu702_Pro708delinsSer
NM_001346898.2:c.2240_2257del	NP_001333827.1:p.Leu747_Pro753delinsSer
NM_001346900.2:c.2081_2098del	NP_001333829.1:p.Leu694_Pro700delinsSer
NM_001346941.2:c.1439_1456del	NP_001333870.1:p.Leu480_Pro486delinsSer
NM_001346899.2:c.2105_2122del	NP_001333828.1:p.Leu702_Pro708delinsSer