Canonical Allele Identifier: CA645561515
Community Standard Title: NM_005228.5(EGFR):c.2237_2253delinsTTGCT (p.Glu746_Thr751delinsValAla)
Gene: EGFR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174774_55174790delinsTTGCT , CM000669.2:g.55174774_55174790delinsTTGCT GRCh38
NC_000007.13:g.55242467_55242483delinsTTGCT , CM000669.1:g.55242467_55242483delinsTTGCT GRCh37
NC_000007.12:g.55209961_55209977delinsTTGCT NCBI36
NG_007726.3:g.160743_160759delinsTTGCT , LRG_304:g.160743_160759delinsTTGCT

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2237_2253delinsTTGCT MANE Select NP_005219.2:p.Glu746_Thr751delinsValAla
ENST00000275493.7:c.2237_2253delinsTTGCT MANE Select ENSP00000275493.2:p.Glu746_Thr751delinsValAla
NM_001346897.1:c.2102_2118delinsTTGCT NP_001333826.1:p.Glu701_Thr706delinsValAla
NM_001346897.2:c.2102_2118delinsTTGCT NP_001333826.1:p.Glu701_Thr706delinsValAla
NM_001346898.1:c.2237_2253delinsTTGCT NP_001333827.1:p.Glu746_Thr751delinsValAla
NM_001346898.2:c.2237_2253delinsTTGCT NP_001333827.1:p.Glu746_Thr751delinsValAla
NM_001346899.1:c.2102_2118delinsTTGCT NP_001333828.1:p.Glu701_Thr706delinsValAla
NM_001346899.2:c.2102_2118delinsTTGCT NP_001333828.1:p.Glu701_Thr706delinsValAla
NM_001346900.1:c.2078_2094delinsTTGCT NP_001333829.1:p.Glu693_Thr698delinsValAla
NM_001346900.2:c.2078_2094delinsTTGCT NP_001333829.1:p.Glu693_Thr698delinsValAla
NM_001346941.1:c.1436_1452delinsTTGCT NP_001333870.1:p.Glu479_Thr484delinsValAla
NM_001346941.2:c.1436_1452delinsTTGCT NP_001333870.1:p.Glu479_Thr484delinsValAla
NM_005228.3:c.2237_2253delinsTTGCT , LRG_304t1:c.2237_2253delinsTTGCT NP_005219.2:p.Glu746_Thr751delinsValAla
NM_005228.4:c.2237_2253delinsTTGCT NP_005219.2:p.Glu746_Thr751delinsValAla
ENST00000275493.6:c.2237_2253delinsTTGCT ENSP00000275493.2:p.Glu746_Thr751delinsValAla
ENST00000442591.5:c.*28+1846_*28+1862delinsTTGCT ENSP00000410031.1:n.*28+1846_*28+1862delinsTTGCT
ENST00000450046.2:c.2078_2094delinsTTGCT ENSP00000413354.2:p.Glu693_Thr698delinsValAla
ENST00000454757.6:c.2102_2118delinsTTGCT ENSP00000395243.3:p.Glu701_Thr706delinsValAla
ENST00000455089.5:c.2102_2118delinsTTGCT ENSP00000415559.1:p.Glu701_Thr706delinsValAla
ENST00000700145.1:c.586_602delinsTTGCT
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