Canonical Allele Identifier: CA158932568
Community Standard Title: NM_005228.5(EGFR):c.2236_2253del (p.Glu746_Thr751del)
Gene: EGFR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174773_55174790del , CM000669.2:g.55174773_55174790del GRCh38
NC_000007.13:g.55242466_55242483del , CM000669.1:g.55242466_55242483del GRCh37
NC_000007.12:g.55209960_55209977del NCBI36
NG_007726.3:g.160742_160759del , LRG_304:g.160742_160759del

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2236_2253del MANE Select NP_005219.2:p.Glu746_Thr751del
ENST00000275493.7:c.2236_2253del MANE Select ENSP00000275493.2:p.Glu746_Thr751del
NM_001346897.1:c.2101_2118del NP_001333826.1:p.Glu701_Thr706del
NM_001346897.2:c.2101_2118del NP_001333826.1:p.Glu701_Thr706del
NM_001346898.1:c.2236_2253del NP_001333827.1:p.Glu746_Thr751del
NM_001346898.2:c.2236_2253del NP_001333827.1:p.Glu746_Thr751del
NM_001346899.1:c.2101_2118del NP_001333828.1:p.Glu701_Thr706del
NM_001346899.2:c.2101_2118del NP_001333828.1:p.Glu701_Thr706del
NM_001346900.1:c.2077_2094del NP_001333829.1:p.Glu693_Thr698del
NM_001346900.2:c.2077_2094del NP_001333829.1:p.Glu693_Thr698del
NM_001346941.1:c.1435_1452del NP_001333870.1:p.Glu479_Thr484del
NM_001346941.2:c.1435_1452del NP_001333870.1:p.Glu479_Thr484del
NM_005228.3:c.2236_2253del , LRG_304t1:c.2236_2253del NP_005219.2:p.Glu746_Thr751del
NM_005228.4:c.2236_2253del NP_005219.2:p.Glu746_Thr751del
ENST00000275493.6:c.2236_2253del ENSP00000275493.2:p.Glu746_Thr751del
ENST00000442591.5:c.*28+1845_*28+1862del ENSP00000410031.1:n.*28+1845_*28+1862del
ENST00000450046.2:c.2077_2094del ENSP00000413354.2:p.Glu693_Thr698del
ENST00000454757.6:c.2101_2118del ENSP00000395243.3:p.Glu701_Thr706del
ENST00000455089.5:c.2101_2118del ENSP00000415559.1:p.Glu701_Thr706del
ENST00000700145.1:c.585_602del
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