Canonical Allele Identifier: CA1708918269
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1786512776

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174713_55174714del , CM000669.2:g.55174713_55174714del GRCh38
NC_000007.13:g.55242406_55242407del , CM000669.1:g.55242406_55242407del GRCh37
NC_000007.12:g.55209900_55209901del NCBI36
NG_007726.3:g.160682_160683del , LRG_304:g.160682_160683del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2185-9_2185-8del MANE Select ENSP00000275493.2:n.2185-9_2185-8del
ENST00000275493.6:c.2185-9_2185-8del ENSP00000275493.2:n.2185-9_2185-8del
ENST00000442591.5:c.*28+1785_*28+1786del ENSP00000410031.1:n.*28+1785_*28+1786del
ENST00000454757.6:c.2050-9_2050-8del ENSP00000395243.3:n.2050-9_2050-8del
ENST00000455089.5:c.2050-9_2050-8del ENSP00000415559.1:n.2050-9_2050-8del
NM_005228.3:c.2185-9_2185-8del , LRG_304t1:c.2185-9_2185-8del NP_005219.2:n.2185-9_2185-8del
NM_001346897.1:c.2050-9_2050-8del NP_001333826.1:n.2050-9_2050-8del
NM_001346898.1:c.2185-9_2185-8del NP_001333827.1:n.2185-9_2185-8del
NM_001346899.1:c.2050-9_2050-8del NP_001333828.1:n.2050-9_2050-8del
NM_001346900.1:c.2026-9_2026-8del NP_001333829.1:n.2026-9_2026-8del
NM_001346941.1:c.1384-9_1384-8del NP_001333870.1:n.1384-9_1384-8del
NM_005228.4:c.2185-9_2185-8del NP_005219.2:n.2185-9_2185-8del
NM_005228.5:c.2185-9_2185-8del MANE Select NP_005219.2:n.2185-9_2185-8del
NM_001346897.2:c.2050-9_2050-8del NP_001333826.1:n.2050-9_2050-8del
NM_001346898.2:c.2185-9_2185-8del NP_001333827.1:n.2185-9_2185-8del
NM_001346900.2:c.2026-9_2026-8del NP_001333829.1:n.2026-9_2026-8del
NM_001346941.2:c.1384-9_1384-8del NP_001333870.1:n.1384-9_1384-8del
NM_001346899.2:c.2050-9_2050-8del NP_001333828.1:n.2050-9_2050-8del