Canonical Allele Identifier: CA3250100689
Community Standard Title: NM_005228.5(EGFR):c.2236delinsCAACCAACATCTC (p.Glu746delinsGlnProThrSerGln)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174773delinsCAACCAACATCTC , CM000669.2:g.55174773delinsCAACCAACATCTC GRCh38
NC_000007.13:g.55242466delinsCAACCAACATCTC , CM000669.1:g.55242466delinsCAACCAACATCTC GRCh37
NC_000007.12:g.55209960delinsCAACCAACATCTC NCBI36
NG_007726.3:g.160742delinsCAACCAACATCTC , LRG_304:g.160742delinsCAACCAACATCTC

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2236delinsCAACCAACATCTC MANE Select NP_005219.2:p.Glu746delinsGlnProThrSerGln
ENST00000275493.7:c.2236delinsCAACCAACATCTC MANE Select ENSP00000275493.2:p.Glu746delinsGlnProThrSerGln
NM_001346897.1:c.2101delinsCAACCAACATCTC NP_001333826.1:p.Glu701delinsGlnProThrSerGln
NM_001346897.2:c.2101delinsCAACCAACATCTC NP_001333826.1:p.Glu701delinsGlnProThrSerGln
NM_001346898.1:c.2236delinsCAACCAACATCTC NP_001333827.1:p.Glu746delinsGlnProThrSerGln
NM_001346898.2:c.2236delinsCAACCAACATCTC NP_001333827.1:p.Glu746delinsGlnProThrSerGln
NM_001346899.1:c.2101delinsCAACCAACATCTC NP_001333828.1:p.Glu701delinsGlnProThrSerGln
NM_001346899.2:c.2101delinsCAACCAACATCTC NP_001333828.1:p.Glu701delinsGlnProThrSerGln
NM_001346900.1:c.2077delinsCAACCAACATCTC NP_001333829.1:p.Glu693delinsGlnProThrSerGln
NM_001346900.2:c.2077delinsCAACCAACATCTC NP_001333829.1:p.Glu693delinsGlnProThrSerGln
NM_001346941.1:c.1435delinsCAACCAACATCTC NP_001333870.1:p.Glu479delinsGlnProThrSerGln
NM_001346941.2:c.1435delinsCAACCAACATCTC NP_001333870.1:p.Glu479delinsGlnProThrSerGln
NM_005228.3:c.2236delinsCAACCAACATCTC , LRG_304t1:c.2236delinsCAACCAACATCTC NP_005219.2:p.Glu746delinsGlnProThrSerGln
NM_005228.4:c.2236delinsCAACCAACATCTC NP_005219.2:p.Glu746delinsGlnProThrSerGln
ENST00000275493.6:c.2236delinsCAACCAACATCTC ENSP00000275493.2:p.Glu746delinsGlnProThrSerGln
ENST00000442591.5:c.*28+1845delinsCAACCAACATCTC ENSP00000410031.1:n.*28+1845delinsCAACCAACATCTC
ENST00000450046.2:c.2077delinsCAACCAACATCTC ENSP00000413354.2:p.Glu693delinsGlnProThrSerGln
ENST00000454757.6:c.2101delinsCAACCAACATCTC ENSP00000395243.3:p.Glu701delinsGlnProThrSerGln
ENST00000455089.5:c.2101delinsCAACCAACATCTC ENSP00000415559.1:p.Glu701delinsGlnProThrSerGln
ENST00000700145.1:c.585delinsCAACCAACATCTC