Canonical Allele Identifier: CA181093
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177971
ClinVar RCV Id: RCV000154644
dbSNP Id: rs727504428

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174769_55174789delinsAAAGTT , CM000669.2:g.55174769_55174789delinsAAAGTT GRCh38
NC_000007.13:g.55242462_55242482delinsAAAGTT , CM000669.1:g.55242462_55242482delinsAAAGTT GRCh37
NC_000007.12:g.55209956_55209976delinsAAAGTT NCBI36
NG_007726.3:g.160738_160758delinsAAAGTT , LRG_304:g.160738_160758delinsAAAGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2232_2252delinsAAAGTT MANE Select ENSP00000275493.2:p.Glu746_Thr751delinsLe...
ENST00000275493.6:c.2232_2252delinsAAAGTT ENSP00000275493.2:p.Glu746_Thr751delinsLe...
ENST00000442591.5:c.*28+1841_*28+1861delinsAAAGTT ENSP00000410031.1:p.=
ENST00000454757.6:c.2097_2117delinsAAAGTT ENSP00000395243.3:p.Glu701_Thr706delinsLe...
ENST00000455089.5:c.2097_2117delinsAAAGTT ENSP00000415559.1:p.Glu701_Thr706delinsLe...
NM_005228.3:c.2232_2252delinsAAAGTT , LRG_304t1:c.2232_2252delinsAAAGTT NP_005219.2:p.Glu746_Thr751delinsLeu
NM_001346897.1:c.2097_2117delinsAAAGTT NP_001333826.1:p.Glu701_Thr706delinsLeu
NM_001346898.1:c.2232_2252delinsAAAGTT NP_001333827.1:p.Glu746_Thr751delinsLeu
NM_001346899.1:c.2097_2117delinsAAAGTT NP_001333828.1:p.Glu701_Thr706delinsLeu
NM_001346900.1:c.2073_2093delinsAAAGTT NP_001333829.1:p.Glu693_Thr698delinsLeu
NM_001346941.1:c.1431_1451delinsAAAGTT NP_001333870.1:p.Glu479_Thr484delinsLeu
NM_005228.4:c.2232_2252delinsAAAGTT NP_005219.2:p.Glu746_Thr751delinsLeu
NM_005228.5:c.2232_2252delinsAAAGTT MANE Select NP_005219.2:p.Glu746_Thr751delinsLeu
NM_001346897.2:c.2097_2117delinsAAAGTT NP_001333826.1:p.Glu701_Thr706delinsLeu
NM_001346898.2:c.2232_2252delinsAAAGTT NP_001333827.1:p.Glu746_Thr751delinsLeu
NM_001346900.2:c.2073_2093delinsAAAGTT NP_001333829.1:p.Glu693_Thr698delinsLeu
NM_001346941.2:c.1431_1451delinsAAAGTT NP_001333870.1:p.Glu479_Thr484delinsLeu
NM_001346899.2:c.2097_2117delinsAAAGTT NP_001333828.1:p.Glu701_Thr706delinsLeu