Canonical Allele Identifier: CA2580615890
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1544581
ClinVar RCV Id: RCV002182377
dbSNP Id: rs1786512776

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174711_55174714del , CM000669.2:g.55174711_55174714del GRCh38
NC_000007.13:g.55242404_55242407del , CM000669.1:g.55242404_55242407del GRCh37
NC_000007.12:g.55209898_55209901del NCBI36
NG_007726.3:g.160680_160683del , LRG_304:g.160680_160683del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2026-11_2026-8del ENSP00000413354.2:n.2026-11_2026-8del
ENST00000700145.1:c.534-11_534-8del
ENST00000275493.7:c.2185-11_2185-8del MANE Select ENSP00000275493.2:n.2185-11_2185-8del
ENST00000275493.6:c.2185-11_2185-8del ENSP00000275493.2:n.2185-11_2185-8del
ENST00000442591.5:c.*28+1783_*28+1786del ENSP00000410031.1:n.*28+1783_*28+1786del
ENST00000454757.6:c.2050-11_2050-8del ENSP00000395243.3:n.2050-11_2050-8del
ENST00000455089.5:c.2050-11_2050-8del ENSP00000415559.1:n.2050-11_2050-8del
NM_005228.3:c.2185-11_2185-8del , LRG_304t1:c.2185-11_2185-8del NP_005219.2:n.2185-11_2185-8del
NM_001346897.1:c.2050-11_2050-8del NP_001333826.1:n.2050-11_2050-8del
NM_001346898.1:c.2185-11_2185-8del NP_001333827.1:n.2185-11_2185-8del
NM_001346899.1:c.2050-11_2050-8del NP_001333828.1:n.2050-11_2050-8del
NM_001346900.1:c.2026-11_2026-8del NP_001333829.1:n.2026-11_2026-8del
NM_001346941.1:c.1384-11_1384-8del NP_001333870.1:n.1384-11_1384-8del
NM_005228.4:c.2185-11_2185-8del NP_005219.2:n.2185-11_2185-8del
NM_005228.5:c.2185-11_2185-8del MANE Select NP_005219.2:n.2185-11_2185-8del
NM_001346897.2:c.2050-11_2050-8del NP_001333826.1:n.2050-11_2050-8del
NM_001346898.2:c.2185-11_2185-8del NP_001333827.1:n.2185-11_2185-8del
NM_001346900.2:c.2026-11_2026-8del NP_001333829.1:n.2026-11_2026-8del
NM_001346941.2:c.1384-11_1384-8del NP_001333870.1:n.1384-11_1384-8del
NM_001346899.2:c.2050-11_2050-8del NP_001333828.1:n.2050-11_2050-8del