Canonical Allele Identifier: CA180774
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177790
ClinVar RCV Id: RCV000154418
dbSNP Id: rs727504326

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174768_55174769insAAAATTCCCGTCGCTA , CM000669.2:g.55174768_55174769insAAAATTCCCGTCGCTA GRCh38
NC_000007.13:g.55242461_55242462insAAAATTCCCGTCGCTA , CM000669.1:g.55242461_55242462insAAAATTCCCGTCGCTA GRCh37
NC_000007.12:g.55209955_55209956insAAAATTCCCGTCGCTA NCBI36
NG_007726.3:g.160737_160738insAAAATTCCCGTCGCTA , LRG_304:g.160737_160738insAAAATTCCCGTCGCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2231_2232insAAAATTCCCGTCGCTA MANE Select ENSP00000275493.2:p.Glu746PhefsTer22
ENST00000275493.6:c.2231_2232insAAAATTCCCGTCGCTA ENSP00000275493.2:p.Glu746PhefsTer22
ENST00000442591.5:c.*28+1840_*28+1841insAAAATTCCCGTCGCTA ENSP00000410031.1:n.*28+1840_*28+1841insA...
ENST00000454757.6:c.2096_2097insAAAATTCCCGTCGCTA ENSP00000395243.3:p.Glu701PhefsTer22
ENST00000455089.5:c.2096_2097insAAAATTCCCGTCGCTA ENSP00000415559.1:p.Glu701PhefsTer22
NM_005228.3:c.2231_2232insAAAATTCCCGTCGCTA , LRG_304t1:c.2231_2232insAAAATTCCCGTCGCTA NP_005219.2:p.Glu746PhefsTer22
NM_001346897.1:c.2096_2097insAAAATTCCCGTCGCTA NP_001333826.1:p.Glu701PhefsTer22
NM_001346898.1:c.2231_2232insAAAATTCCCGTCGCTA NP_001333827.1:p.Glu746PhefsTer22
NM_001346899.1:c.2096_2097insAAAATTCCCGTCGCTA NP_001333828.1:p.Glu701PhefsTer22
NM_001346900.1:c.2072_2073insAAAATTCCCGTCGCTA NP_001333829.1:p.Glu693PhefsTer22
NM_001346941.1:c.1430_1431insAAAATTCCCGTCGCTA NP_001333870.1:p.Glu479PhefsTer22
NM_005228.4:c.2231_2232insAAAATTCCCGTCGCTA NP_005219.2:p.Glu746PhefsTer22
NM_005228.5:c.2231_2232insAAAATTCCCGTCGCTA MANE Select NP_005219.2:p.Glu746PhefsTer22
NM_001346897.2:c.2096_2097insAAAATTCCCGTCGCTA NP_001333826.1:p.Glu701PhefsTer22
NM_001346898.2:c.2231_2232insAAAATTCCCGTCGCTA NP_001333827.1:p.Glu746PhefsTer22
NM_001346900.2:c.2072_2073insAAAATTCCCGTCGCTA NP_001333829.1:p.Glu693PhefsTer22
NM_001346941.2:c.1430_1431insAAAATTCCCGTCGCTA NP_001333870.1:p.Glu479PhefsTer22
NM_001346899.2:c.2096_2097insAAAATTCCCGTCGCTA NP_001333828.1:p.Glu701PhefsTer22