Canonical Allele Identifier: CA645561565
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 638163
ClinVar RCV Id: RCV000790622
dbSNP Id: rs1584238193
COSMIC: COSM85750

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181312_55181314delinsTCT , CM000669.2:g.55181312_55181314delinsTCT GRCh38
NC_000007.13:g.55249005_55249007delinsTCT , CM000669.1:g.55249005_55249007delinsTCT GRCh37
NC_000007.12:g.55216499_55216501delinsTCT NCBI36
NG_007726.3:g.167281_167283delinsTCT , LRG_304:g.167281_167283delinsTCT

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2144_2146delinsTCT (EGFR) ENSP00000413354.2:p.Ser715_Val716delinsIl...
ENST00000700145.1:c.652_654delinsTCT (EGFR)
ENST00000275493.7:c.2303_2305delinsTCT (EGFR) MANE Select ENSP00000275493.2:p.Ser768_Val769delinsIl...
ENST00000275493.6:c.2303_2305delinsTCT (EGFR) ENSP00000275493.2:p.Ser768_Val769delinsIl...
ENST00000442591.5:c.*28+8384_*28+8386delinsTCT (EGFR) ENSP00000410031.1:n.*28+8384_*28+8386deli...
ENST00000454757.6:c.2168_2170delinsTCT (EGFR) ENSP00000395243.3:p.Ser723_Val724delinsIl...
ENST00000455089.5:c.2168_2170delinsTCT (EGFR) ENSP00000415559.1:p.Ser723_Val724delinsIl...
NM_005228.3:c.2303_2305delinsTCT , LRG_304t1:c.2303_2305delinsTCT (EGFR) NP_005219.2:p.Ser768_Val769delinsIleLeu
NR_047551.1:n.1257_1259delinsAGA (EGFR-AS1)
NM_001346897.1:c.2168_2170delinsTCT (EGFR) NP_001333826.1:p.Ser723_Val724delinsIleLe...
NM_001346898.1:c.2303_2305delinsTCT (EGFR) NP_001333827.1:p.Ser768_Val769delinsIleLe...
NM_001346899.1:c.2168_2170delinsTCT (EGFR) NP_001333828.1:p.Ser723_Val724delinsIleLe...
NM_001346900.1:c.2144_2146delinsTCT (EGFR) NP_001333829.1:p.Ser715_Val716delinsIleLe...
NM_001346941.1:c.1502_1504delinsTCT (EGFR) NP_001333870.1:p.Ser501_Val502delinsIleLe...
NM_005228.4:c.2303_2305delinsTCT (EGFR) NP_005219.2:p.Ser768_Val769delinsIleLeu
NM_005228.5:c.2303_2305delinsTCT (EGFR) MANE Select NP_005219.2:p.Ser768_Val769delinsIleLeu
NM_001346897.2:c.2168_2170delinsTCT (EGFR) NP_001333826.1:p.Ser723_Val724delinsIleLe...
NM_001346898.2:c.2303_2305delinsTCT (EGFR) NP_001333827.1:p.Ser768_Val769delinsIleLe...
NM_001346900.2:c.2144_2146delinsTCT (EGFR) NP_001333829.1:p.Ser715_Val716delinsIleLe...
NM_001346941.2:c.1502_1504delinsTCT (EGFR) NP_001333870.1:p.Ser501_Val502delinsIleLe...
NM_001346899.2:c.2168_2170delinsTCT (EGFR) NP_001333828.1:p.Ser723_Val724delinsIleLe...