Canonical Allele Identifier: CA175993
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 163337
ClinVar RCV Id: RCV000150616
dbSNP Id: rs727503014
COSMIC: COSM85798

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174767_55174786delinsGTCAA , CM000669.2:g.55174767_55174786delinsGTCAA GRCh38
NC_000007.13:g.55242460_55242479delinsGTCAA , CM000669.1:g.55242460_55242479delinsGTCAA GRCh37
NC_000007.12:g.55209954_55209973delinsGTCAA NCBI36
NG_007726.3:g.160736_160755delinsGTCAA , LRG_304:g.160736_160755delinsGTCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2230_2249delinsGTCAA MANE Select ENSP00000275493.2:p.Ile744_Ala750delinsVa...
ENST00000275493.6:c.2230_2249delinsGTCAA ENSP00000275493.2:p.Ile744_Ala750delinsVa...
ENST00000442591.5:c.*28+1839_*28+1858delinsGTCAA ENSP00000410031.1:p.=
ENST00000454757.6:c.2095_2114delinsGTCAA ENSP00000395243.3:p.Ile699_Ala705delinsVa...
ENST00000455089.5:c.2095_2114delinsGTCAA ENSP00000415559.1:p.Ile699_Ala705delinsVa...
NM_005228.3:c.2230_2249delinsGTCAA , LRG_304t1:c.2230_2249delinsGTCAA NP_005219.2:p.Ile744_Ala750delinsValLys
NM_001346897.1:c.2095_2114delinsGTCAA NP_001333826.1:p.Ile699_Ala705delinsValLy...
NM_001346898.1:c.2230_2249delinsGTCAA NP_001333827.1:p.Ile744_Ala750delinsValLy...
NM_001346899.1:c.2095_2114delinsGTCAA NP_001333828.1:p.Ile699_Ala705delinsValLy...
NM_001346900.1:c.2071_2090delinsGTCAA NP_001333829.1:p.Ile691_Ala697delinsValLy...
NM_001346941.1:c.1429_1448delinsGTCAA NP_001333870.1:p.Ile477_Ala483delinsValLy...
NM_005228.4:c.2230_2249delinsGTCAA NP_005219.2:p.Ile744_Ala750delinsValLys
NM_005228.5:c.2230_2249delinsGTCAA MANE Select NP_005219.2:p.Ile744_Ala750delinsValLys
NM_001346897.2:c.2095_2114delinsGTCAA NP_001333826.1:p.Ile699_Ala705delinsValLy...
NM_001346898.2:c.2230_2249delinsGTCAA NP_001333827.1:p.Ile744_Ala750delinsValLy...
NM_001346900.2:c.2071_2090delinsGTCAA NP_001333829.1:p.Ile691_Ala697delinsValLy...
NM_001346941.2:c.1429_1448delinsGTCAA NP_001333870.1:p.Ile477_Ala483delinsValLy...
NM_001346899.2:c.2095_2114delinsGTCAA NP_001333828.1:p.Ile699_Ala705delinsValLy...