Canonical Allele Identifier: CA2840220846
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191749dup , CM000669.2:g.55191749dup GRCh38
NC_000007.13:g.55259442dup , CM000669.1:g.55259442dup GRCh37
NC_000007.12:g.55226936dup NCBI36
NG_007726.3:g.177718dup , LRG_304:g.177718dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2341dup ENSP00000413354.2:p.Val781GlyfsTer?
ENST00000700145.1:c.849dup
ENST00000275493.7:c.2500dup MANE Select ENSP00000275493.2:p.Val834GlyfsTer?
ENST00000275493.6:c.2500dup ENSP00000275493.2:p.Val834GlyfsTer?
ENST00000442591.5:c.*28+18821dup ENSP00000410031.1:n.*28+18821dup
ENST00000454757.6:c.2365dup ENSP00000395243.3:p.Val789GlyfsTer?
ENST00000455089.5:c.2365dup ENSP00000415559.1:p.Val789GlyfsTer?
NM_005228.3:c.2500dup , LRG_304t1:c.2500dup NP_005219.2:p.Val834GlyfsTer?
NM_001346897.1:c.2365dup NP_001333826.1:p.Val789GlyfsTer?
NM_001346898.1:c.2500dup NP_001333827.1:p.Val834GlyfsTer?
NM_001346899.1:c.2365dup NP_001333828.1:p.Val789GlyfsTer?
NM_001346900.1:c.2341dup NP_001333829.1:p.Val781GlyfsTer?
NM_001346941.1:c.1699dup NP_001333870.1:p.Val567GlyfsTer?
NM_005228.4:c.2500dup NP_005219.2:p.Val834GlyfsTer?
NM_005228.5:c.2500dup MANE Select NP_005219.2:p.Val834GlyfsTer?
NM_001346897.2:c.2365dup NP_001333826.1:p.Val789GlyfsTer?
NM_001346898.2:c.2500dup NP_001333827.1:p.Val834GlyfsTer?
NM_001346900.2:c.2341dup NP_001333829.1:p.Val781GlyfsTer?
NM_001346941.2:c.1699dup NP_001333870.1:p.Val567GlyfsTer?
NM_001346899.2:c.2365dup NP_001333828.1:p.Val789GlyfsTer?