Canonical Allele Identifier: CA180622

Gene: EGFR

Linked Data

• ClinVar Variation Id: 177691
• ClinVar RCV Id: RCV000154290
• dbSNP Id: rs727504282
• COSMIC: COSM18427
• MyVariant Identifiers: chr7:g.55242467_55242487delinsTCT (hg19) ; chr7:g.55174774_55174794delinsTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174774_55174794delinsTCT , CM000669.2:g.55174774_55174794delinsTCT	GRCh38
NC_000007.13:g.55242467_55242487delinsTCT , CM000669.1:g.55242467_55242487delinsTCT	GRCh37
NC_000007.12:g.55209961_55209981delinsTCT	NCBI36
NG_007726.3:g.160743_160763delinsTCT , LRG_304:g.160743_160763delinsTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2078_2098delinsTCT	ENSP00000413354.2:p.Glu693_Pro700delinsVa...
ENST00000700145.1:c.586_606delinsTCT
ENST00000275493.7:c.2237_2257delinsTCT MANE Select	ENSP00000275493.2:p.Glu746_Pro753delinsVa...
ENST00000275493.6:c.2237_2257delinsTCT	ENSP00000275493.2:p.Glu746_Pro753delinsVa...
ENST00000442591.5:c.*28+1846_*28+1866delinsTCT	ENSP00000410031.1:n.*28+1846_*28+1866deli...
ENST00000454757.6:c.2102_2122delinsTCT	ENSP00000395243.3:p.Glu701_Pro708delinsVa...
ENST00000455089.5:c.2102_2122delinsTCT	ENSP00000415559.1:p.Glu701_Pro708delinsVa...
NM_005228.3:c.2237_2257delinsTCT , LRG_304t1:c.2237_2257delinsTCT	NP_005219.2:p.Glu746_Pro753delinsValSer
NM_001346897.1:c.2102_2122delinsTCT	NP_001333826.1:p.Glu701_Pro708delinsValSe...
NM_001346898.1:c.2237_2257delinsTCT	NP_001333827.1:p.Glu746_Pro753delinsValSe...
NM_001346899.1:c.2102_2122delinsTCT	NP_001333828.1:p.Glu701_Pro708delinsValSe...
NM_001346900.1:c.2078_2098delinsTCT	NP_001333829.1:p.Glu693_Pro700delinsValSe...
NM_001346941.1:c.1436_1456delinsTCT	NP_001333870.1:p.Glu479_Pro486delinsValSe...
NM_005228.4:c.2237_2257delinsTCT	NP_005219.2:p.Glu746_Pro753delinsValSer
NM_005228.5:c.2237_2257delinsTCT MANE Select	NP_005219.2:p.Glu746_Pro753delinsValSer
NM_001346897.2:c.2102_2122delinsTCT	NP_001333826.1:p.Glu701_Pro708delinsValSe...
NM_001346898.2:c.2237_2257delinsTCT	NP_001333827.1:p.Glu746_Pro753delinsValSe...
NM_001346900.2:c.2078_2098delinsTCT	NP_001333829.1:p.Glu693_Pro700delinsValSe...
NM_001346941.2:c.1436_1456delinsTCT	NP_001333870.1:p.Glu479_Pro486delinsValSe...
NM_001346899.2:c.2102_2122delinsTCT	NP_001333828.1:p.Glu701_Pro708delinsValSe...