Canonical Allele Identifier: CA16602730
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376282
ClinVar RCV Id: RCV000425876
dbSNP Id: rs1057519848
COSMIC: COSM12429

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191822_55191823delinsGT , CM000669.2:g.55191822_55191823delinsGT GRCh38
NC_000007.13:g.55259515_55259516delinsGT , CM000669.1:g.55259515_55259516delinsGT GRCh37
NC_000007.12:g.55227009_55227010delinsGT NCBI36
NG_007726.3:g.177791_177792delinsGT , LRG_304:g.177791_177792delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2414_2415delinsGT ENSP00000413354.2:p.Leu805Arg
ENST00000700145.1:c.899+23_899+24delinsGT
ENST00000275493.7:c.2573_2574delinsGT MANE Select ENSP00000275493.2:p.Leu858Arg
ENST00000275493.6:c.2573_2574delinsGT ENSP00000275493.2:p.Leu858Arg
ENST00000442591.5:c.*28+18894_*28+18895delinsGT ENSP00000410031.1:n.*28+18894_*28+18895de...
ENST00000454757.6:c.2438_2439delinsGT ENSP00000395243.3:p.Leu813Arg
ENST00000455089.5:c.2438_2439delinsGT ENSP00000415559.1:p.Leu813Arg
NM_005228.3:c.2573_2574delinsGT , LRG_304t1:c.2573_2574delinsGT NP_005219.2:p.Leu858Arg
NM_001346897.1:c.2438_2439delinsGT NP_001333826.1:p.Leu813Arg
NM_001346898.1:c.2573_2574delinsGT NP_001333827.1:p.Leu858Arg
NM_001346899.1:c.2438_2439delinsGT NP_001333828.1:p.Leu813Arg
NM_001346900.1:c.2414_2415delinsGT NP_001333829.1:p.Leu805Arg
NM_001346941.1:c.1772_1773delinsGT NP_001333870.1:p.Leu591Arg
NM_005228.4:c.2573_2574delinsGT NP_005219.2:p.Leu858Arg
NM_005228.5:c.2573_2574delinsGT MANE Select NP_005219.2:p.Leu858Arg
NM_001346897.2:c.2438_2439delinsGT NP_001333826.1:p.Leu813Arg
NM_001346898.2:c.2573_2574delinsGT NP_001333827.1:p.Leu858Arg
NM_001346900.2:c.2414_2415delinsGT NP_001333829.1:p.Leu805Arg
NM_001346941.2:c.1772_1773delinsGT NP_001333870.1:p.Leu591Arg
NM_001346899.2:c.2438_2439delinsGT NP_001333828.1:p.Leu813Arg