Canonical Allele Identifier: CA180861
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177848
ClinVar RCV Id: RCV000154485
dbSNP Id: rs727504339

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174794delinsCAAT , CM000669.2:g.55174776_55174794delinsCAAT GRCh38
NC_000007.13:g.55242469_55242487delinsCAAT , CM000669.1:g.55242469_55242487delinsCAAT GRCh37
NC_000007.12:g.55209963_55209981delinsCAAT NCBI36
NG_007726.3:g.160745_160763delinsCAAT , LRG_304:g.160745_160763delinsCAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2080_2098delinsCAAT ENSP00000413354.2:p.Leu694_Pro700delinsGl...
ENST00000700145.1:c.588_606delinsCAAT
ENST00000275493.7:c.2239_2257delinsCAAT MANE Select ENSP00000275493.2:p.Leu747_Pro753delinsGl...
ENST00000275493.6:c.2239_2257delinsCAAT ENSP00000275493.2:p.Leu747_Pro753delinsGl...
ENST00000442591.5:c.*28+1848_*28+1866delinsCAAT ENSP00000410031.1:n.*28+1848_*28+1866deli...
ENST00000454757.6:c.2104_2122delinsCAAT ENSP00000395243.3:p.Leu702_Pro708delinsGl...
ENST00000455089.5:c.2104_2122delinsCAAT ENSP00000415559.1:p.Leu702_Pro708delinsGl...
NM_005228.3:c.2239_2257delinsCAAT , LRG_304t1:c.2239_2257delinsCAAT NP_005219.2:p.Leu747_Pro753delinsGlnSer
NM_001346897.1:c.2104_2122delinsCAAT NP_001333826.1:p.Leu702_Pro708delinsGlnSe...
NM_001346898.1:c.2239_2257delinsCAAT NP_001333827.1:p.Leu747_Pro753delinsGlnSe...
NM_001346899.1:c.2104_2122delinsCAAT NP_001333828.1:p.Leu702_Pro708delinsGlnSe...
NM_001346900.1:c.2080_2098delinsCAAT NP_001333829.1:p.Leu694_Pro700delinsGlnSe...
NM_001346941.1:c.1438_1456delinsCAAT NP_001333870.1:p.Leu480_Pro486delinsGlnSe...
NM_005228.4:c.2239_2257delinsCAAT NP_005219.2:p.Leu747_Pro753delinsGlnSer
NM_005228.5:c.2239_2257delinsCAAT MANE Select NP_005219.2:p.Leu747_Pro753delinsGlnSer
NM_001346897.2:c.2104_2122delinsCAAT NP_001333826.1:p.Leu702_Pro708delinsGlnSe...
NM_001346898.2:c.2239_2257delinsCAAT NP_001333827.1:p.Leu747_Pro753delinsGlnSe...
NM_001346900.2:c.2080_2098delinsCAAT NP_001333829.1:p.Leu694_Pro700delinsGlnSe...
NM_001346941.2:c.1438_1456delinsCAAT NP_001333870.1:p.Leu480_Pro486delinsGlnSe...
NM_001346899.2:c.2104_2122delinsCAAT NP_001333828.1:p.Leu702_Pro708delinsGlnSe...