Canonical Allele Identifier: CA1708918348
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174783_55174801delinsAAGCAACATCTCCGAAAGC , CM000669.2:g.55174783_55174801delinsAAGCAACATCTCCGAAAGC GRCh38
NC_000007.13:g.55242476_55242494delinsAAGCAACATCTCCGAAAGC , CM000669.1:g.55242476_55242494delinsAAGCAACATCTCCGAAAGC GRCh37
NC_000007.12:g.55209970_55209988delinsAAGCAACATCTCCGAAAGC NCBI36
NG_007726.3:g.160752_160770delinsAAGCAACATCTCCGAAAGC , LRG_304:g.160752_160770delinsAAGCAACATCTCCGAAAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2087_2105delinsAAGCAACATCTCCGAAAGC ENSP00000413354.2:p.Glu696=
ENST00000700145.1:c.595_613delinsAAGCAACATCTCCGAAAGC
ENST00000275493.7:c.2246_2264delinsAAGCAACATCTCCGAAAGC MANE Select ENSP00000275493.2:p.Glu749=
ENST00000275493.6:c.2246_2264delinsAAGCAACATCTCCGAAAGC ENSP00000275493.2:p.Glu749=
ENST00000442591.5:c.*28+1855_*28+1873delinsAAGCAACATCTCCGAAAGC ENSP00000410031.1:n.*28+1855_*28+1873deli...
ENST00000454757.6:c.2111_2129delinsAAGCAACATCTCCGAAAGC ENSP00000395243.3:p.Glu704=
ENST00000455089.5:c.2111_2129delinsAAGCAACATCTCCGAAAGC ENSP00000415559.1:p.Glu704=
NM_005228.3:c.2246_2264delinsAAGCAACATCTCCGAAAGC , LRG_304t1:c.2246_2264delinsAAGCAACATCTCCGAAAGC NP_005219.2:p.Glu749=
NM_001346897.1:c.2111_2129delinsAAGCAACATCTCCGAAAGC NP_001333826.1:p.Glu704=
NM_001346898.1:c.2246_2264delinsAAGCAACATCTCCGAAAGC NP_001333827.1:p.Glu749=
NM_001346899.1:c.2111_2129delinsAAGCAACATCTCCGAAAGC NP_001333828.1:p.Glu704=
NM_001346900.1:c.2087_2105delinsAAGCAACATCTCCGAAAGC NP_001333829.1:p.Glu696=
NM_001346941.1:c.1445_1463delinsAAGCAACATCTCCGAAAGC NP_001333870.1:p.Glu482=
NM_005228.4:c.2246_2264delinsAAGCAACATCTCCGAAAGC NP_005219.2:p.Glu749=
NM_005228.5:c.2246_2264delinsAAGCAACATCTCCGAAAGC MANE Select NP_005219.2:p.Glu749=
NM_001346897.2:c.2111_2129delinsAAGCAACATCTCCGAAAGC NP_001333826.1:p.Glu704=
NM_001346898.2:c.2246_2264delinsAAGCAACATCTCCGAAAGC NP_001333827.1:p.Glu749=
NM_001346900.2:c.2087_2105delinsAAGCAACATCTCCGAAAGC NP_001333829.1:p.Glu696=
NM_001346941.2:c.1445_1463delinsAAGCAACATCTCCGAAAGC NP_001333870.1:p.Glu482=
NM_001346899.2:c.2111_2129delinsAAGCAACATCTCCGAAAGC NP_001333828.1:p.Glu704=