Canonical Allele Identifier: CA1708918341
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174788delinsTTAAGAGAAGCAA , CM000669.2:g.55174776_55174788delinsTTAAGAGAAGCAA GRCh38
NC_000007.13:g.55242469_55242481delinsTTAAGAGAAGCAA , CM000669.1:g.55242469_55242481delinsTTAAGAGAAGCAA GRCh37
NC_000007.12:g.55209963_55209975delinsTTAAGAGAAGCAA NCBI36
NG_007726.3:g.160745_160757delinsTTAAGAGAAGCAA , LRG_304:g.160745_160757delinsTTAAGAGAAGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2080_2092delinsTTAAGAGAAGCAA ENSP00000413354.2:p.Leu694=
ENST00000700145.1:c.588_600delinsTTAAGAGAAGCAA
ENST00000275493.7:c.2239_2251delinsTTAAGAGAAGCAA MANE Select ENSP00000275493.2:p.Leu747=
ENST00000275493.6:c.2239_2251delinsTTAAGAGAAGCAA ENSP00000275493.2:p.Leu747=
ENST00000442591.5:c.*28+1848_*28+1860delinsTTAAGAGAAGCAA ENSP00000410031.1:n.*28+1848_*28+1860delinsTTAAGAGAAGCAA
ENST00000454757.6:c.2104_2116delinsTTAAGAGAAGCAA ENSP00000395243.3:p.Leu702=
ENST00000455089.5:c.2104_2116delinsTTAAGAGAAGCAA ENSP00000415559.1:p.Leu702=
NM_005228.3:c.2239_2251delinsTTAAGAGAAGCAA , LRG_304t1:c.2239_2251delinsTTAAGAGAAGCAA NP_005219.2:p.Leu747=
NM_001346897.1:c.2104_2116delinsTTAAGAGAAGCAA NP_001333826.1:p.Leu702=
NM_001346898.1:c.2239_2251delinsTTAAGAGAAGCAA NP_001333827.1:p.Leu747=
NM_001346899.1:c.2104_2116delinsTTAAGAGAAGCAA NP_001333828.1:p.Leu702=
NM_001346900.1:c.2080_2092delinsTTAAGAGAAGCAA NP_001333829.1:p.Leu694=
NM_001346941.1:c.1438_1450delinsTTAAGAGAAGCAA NP_001333870.1:p.Leu480=
NM_005228.4:c.2239_2251delinsTTAAGAGAAGCAA NP_005219.2:p.Leu747=
NM_005228.5:c.2239_2251delinsTTAAGAGAAGCAA MANE Select NP_005219.2:p.Leu747=
NM_001346897.2:c.2104_2116delinsTTAAGAGAAGCAA NP_001333826.1:p.Leu702=
NM_001346898.2:c.2239_2251delinsTTAAGAGAAGCAA NP_001333827.1:p.Leu747=
NM_001346900.2:c.2080_2092delinsTTAAGAGAAGCAA NP_001333829.1:p.Leu694=
NM_001346941.2:c.1438_1450delinsTTAAGAGAAGCAA NP_001333870.1:p.Leu480=
NM_001346899.2:c.2104_2116delinsTTAAGAGAAGCAA NP_001333828.1:p.Leu702=