Canonical Allele Identifier: CA1708918351
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174785_55174801delinsGCAACATCTCCGAAAGC , CM000669.2:g.55174785_55174801delinsGCAACATCTCCGAAAGC GRCh38
NC_000007.13:g.55242478_55242494delinsGCAACATCTCCGAAAGC , CM000669.1:g.55242478_55242494delinsGCAACATCTCCGAAAGC GRCh37
NC_000007.12:g.55209972_55209988delinsGCAACATCTCCGAAAGC NCBI36
NG_007726.3:g.160754_160770delinsGCAACATCTCCGAAAGC , LRG_304:g.160754_160770delinsGCAACATCTCCGAAAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2089_2105delinsGCAACATCTCCGAAAGC ENSP00000413354.2:p.Ala697=
ENST00000700145.1:c.597_613delinsGCAACATCTCCGAAAGC
ENST00000275493.7:c.2248_2264delinsGCAACATCTCCGAAAGC MANE Select ENSP00000275493.2:p.Ala750=
ENST00000275493.6:c.2248_2264delinsGCAACATCTCCGAAAGC ENSP00000275493.2:p.Ala750=
ENST00000442591.5:c.*28+1857_*28+1873delinsGCAACATCTCCGAAAGC ENSP00000410031.1:n.*28+1857_*28+1873deli...
ENST00000454757.6:c.2113_2129delinsGCAACATCTCCGAAAGC ENSP00000395243.3:p.Ala705=
ENST00000455089.5:c.2113_2129delinsGCAACATCTCCGAAAGC ENSP00000415559.1:p.Ala705=
NM_005228.3:c.2248_2264delinsGCAACATCTCCGAAAGC , LRG_304t1:c.2248_2264delinsGCAACATCTCCGAAAGC NP_005219.2:p.Ala750=
NM_001346897.1:c.2113_2129delinsGCAACATCTCCGAAAGC NP_001333826.1:p.Ala705=
NM_001346898.1:c.2248_2264delinsGCAACATCTCCGAAAGC NP_001333827.1:p.Ala750=
NM_001346899.1:c.2113_2129delinsGCAACATCTCCGAAAGC NP_001333828.1:p.Ala705=
NM_001346900.1:c.2089_2105delinsGCAACATCTCCGAAAGC NP_001333829.1:p.Ala697=
NM_001346941.1:c.1447_1463delinsGCAACATCTCCGAAAGC NP_001333870.1:p.Ala483=
NM_005228.4:c.2248_2264delinsGCAACATCTCCGAAAGC NP_005219.2:p.Ala750=
NM_005228.5:c.2248_2264delinsGCAACATCTCCGAAAGC MANE Select NP_005219.2:p.Ala750=
NM_001346897.2:c.2113_2129delinsGCAACATCTCCGAAAGC NP_001333826.1:p.Ala705=
NM_001346898.2:c.2248_2264delinsGCAACATCTCCGAAAGC NP_001333827.1:p.Ala750=
NM_001346900.2:c.2089_2105delinsGCAACATCTCCGAAAGC NP_001333829.1:p.Ala697=
NM_001346941.2:c.1447_1463delinsGCAACATCTCCGAAAGC NP_001333870.1:p.Ala483=
NM_001346899.2:c.2113_2129delinsGCAACATCTCCGAAAGC NP_001333828.1:p.Ala705=