Canonical Allele Identifier: CA135833
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45248
ClinVar RCV Id: RCV000038404
dbSNP Id: rs397517106
COSMIC: COSM26720
CIViC: CA135833

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181288_55181299dup , CM000669.2:g.55181288_55181299dup GRCh38
NC_000007.13:g.55248981_55248992dup , CM000669.1:g.55248981_55248992dup GRCh37
NC_000007.12:g.55216475_55216486dup NCBI36
NG_007726.3:g.167257_167268dup , LRG_304:g.167257_167268dup

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2125-5_2131dup (EGFR)
ENST00000700145.1:c.633-5_639dup (EGFR)
ENST00000275493.7:c.2284-5_2290dup (EGFR)
ENST00000275493.6:c.2284-5_2290dup (EGFR)
ENST00000442591.5:c.*28+8360_*28+8371dup (EGFR) ENSP00000410031.1:n.*28+8360_*28+8371dup
ENST00000454757.6:c.2149-5_2155dup (EGFR)
ENST00000455089.5:c.2149-5_2155dup (EGFR)
NM_005228.3:c.2284-5_2290dup , LRG_304t1:c.2284-5_2290dup (EGFR)
NR_047551.1:n.1272_1283dup (EGFR-AS1)
NM_001346897.1:c.2149-5_2155dup (EGFR)
NM_001346898.1:c.2284-5_2290dup (EGFR)
NM_001346899.1:c.2149-5_2155dup (EGFR)
NM_001346900.1:c.2125-5_2131dup (EGFR)
NM_001346941.1:c.1483-5_1489dup (EGFR)
NM_005228.4:c.2284-5_2290dup (EGFR)
NM_005228.5:c.2284-5_2290dup (EGFR)
NM_001346897.2:c.2149-5_2155dup (EGFR)
NM_001346898.2:c.2284-5_2290dup (EGFR)
NM_001346900.2:c.2125-5_2131dup (EGFR)
NM_001346941.2:c.1483-5_1489dup (EGFR)
NM_001346899.2:c.2149-5_2155dup (EGFR)