Canonical Allele Identifier: CA135843
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45252
ClinVar RCV Id: RCV000038408
dbSNP Id: rs397517108

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181312_55181313delinsTT , CM000669.2:g.55181312_55181313delinsTT GRCh38
NC_000007.13:g.55249005_55249006delinsTT , CM000669.1:g.55249005_55249006delinsTT GRCh37
NC_000007.12:g.55216499_55216500delinsTT NCBI36
NG_007726.3:g.167281_167282delinsTT , LRG_304:g.167281_167282delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2144_2145delinsTT (EGFR) ENSP00000413354.2:p.Ser715Ile
ENST00000700145.1:c.652_653delinsTT (EGFR)
ENST00000275493.7:c.2303_2304delinsTT (EGFR) MANE Select ENSP00000275493.2:p.Ser768Ile
ENST00000275493.6:c.2303_2304delinsTT (EGFR) ENSP00000275493.2:p.Ser768Ile
ENST00000442591.5:c.*28+8384_*28+8385delinsTT (EGFR) ENSP00000410031.1:n.*28+8384_*28+8385deli...
ENST00000454757.6:c.2168_2169delinsTT (EGFR) ENSP00000395243.3:p.Ser723Ile
ENST00000455089.5:c.2168_2169delinsTT (EGFR) ENSP00000415559.1:p.Ser723Ile
NM_005228.3:c.2303_2304delinsTT , LRG_304t1:c.2303_2304delinsTT (EGFR) NP_005219.2:p.Ser768Ile
NR_047551.1:n.1258_1259delinsAA (EGFR-AS1)
NM_001346897.1:c.2168_2169delinsTT (EGFR) NP_001333826.1:p.Ser723Ile
NM_001346898.1:c.2303_2304delinsTT (EGFR) NP_001333827.1:p.Ser768Ile
NM_001346899.1:c.2168_2169delinsTT (EGFR) NP_001333828.1:p.Ser723Ile
NM_001346900.1:c.2144_2145delinsTT (EGFR) NP_001333829.1:p.Ser715Ile
NM_001346941.1:c.1502_1503delinsTT (EGFR) NP_001333870.1:p.Ser501Ile
NM_005228.4:c.2303_2304delinsTT (EGFR) NP_005219.2:p.Ser768Ile
NM_005228.5:c.2303_2304delinsTT (EGFR) MANE Select NP_005219.2:p.Ser768Ile
NM_001346897.2:c.2168_2169delinsTT (EGFR) NP_001333826.1:p.Ser723Ile
NM_001346898.2:c.2303_2304delinsTT (EGFR) NP_001333827.1:p.Ser768Ile
NM_001346900.2:c.2144_2145delinsTT (EGFR) NP_001333829.1:p.Ser715Ile
NM_001346941.2:c.1502_1503delinsTT (EGFR) NP_001333870.1:p.Ser501Ile
NM_001346899.2:c.2168_2169delinsTT (EGFR) NP_001333828.1:p.Ser723Ile