Canonical Allele Identifier: CA645561578
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2128958362
COSMIC: COSM12737

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181318_55181321delinsCTGGTGG , CM000669.2:g.55181318_55181321delinsCTGGTGG GRCh38
NC_000007.13:g.55249011_55249014delinsCTGGTGG , CM000669.1:g.55249011_55249014delinsCTGGTGG GRCh37
NC_000007.12:g.55216505_55216508delinsCTGGTGG NCBI36
NG_007726.3:g.167287_167290delinsCTGGTGG , LRG_304:g.167287_167290delinsCTGGTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2150_2153delinsCTGGTGG (EGFR) ENSP00000413354.2:p.Asp717_Asn718delinsAl...
ENST00000700145.1:c.658_661delinsCTGGTGG (EGFR)
ENST00000275493.7:c.2309_2312delinsCTGGTGG (EGFR) MANE Select ENSP00000275493.2:p.Asp770_Asn771delinsAl...
ENST00000275493.6:c.2309_2312delinsCTGGTGG (EGFR) ENSP00000275493.2:p.Asp770_Asn771delinsAl...
ENST00000442591.5:c.*28+8390_*28+8393delinsCTGGTGG (EGFR) ENSP00000410031.1:n.*28+8390_*28+8393deli...
ENST00000454757.6:c.2174_2177delinsCTGGTGG (EGFR) ENSP00000395243.3:p.Asp725_Asn726delinsAl...
ENST00000455089.5:c.2174_2177delinsCTGGTGG (EGFR) ENSP00000415559.1:p.Asp725_Asn726delinsAl...
NM_005228.3:c.2309_2312delinsCTGGTGG , LRG_304t1:c.2309_2312delinsCTGGTGG (EGFR) NP_005219.2:p.Asp770_Asn771delinsAlaGlyGl...
NR_047551.1:n.1250_1253delinsCCACCAG (EGFR-AS1)
NM_001346897.1:c.2174_2177delinsCTGGTGG (EGFR) NP_001333826.1:p.Asp725_Asn726delinsAlaGl...
NM_001346898.1:c.2309_2312delinsCTGGTGG (EGFR) NP_001333827.1:p.Asp770_Asn771delinsAlaGl...
NM_001346899.1:c.2174_2177delinsCTGGTGG (EGFR) NP_001333828.1:p.Asp725_Asn726delinsAlaGl...
NM_001346900.1:c.2150_2153delinsCTGGTGG (EGFR) NP_001333829.1:p.Asp717_Asn718delinsAlaGl...
NM_001346941.1:c.1508_1511delinsCTGGTGG (EGFR) NP_001333870.1:p.Asp503_Asn504delinsAlaGl...
NM_005228.4:c.2309_2312delinsCTGGTGG (EGFR) NP_005219.2:p.Asp770_Asn771delinsAlaGlyGl...
NM_005228.5:c.2309_2312delinsCTGGTGG (EGFR) MANE Select NP_005219.2:p.Asp770_Asn771delinsAlaGlyGl...
NM_001346897.2:c.2174_2177delinsCTGGTGG (EGFR) NP_001333826.1:p.Asp725_Asn726delinsAlaGl...
NM_001346898.2:c.2309_2312delinsCTGGTGG (EGFR) NP_001333827.1:p.Asp770_Asn771delinsAlaGl...
NM_001346900.2:c.2150_2153delinsCTGGTGG (EGFR) NP_001333829.1:p.Asp717_Asn718delinsAlaGl...
NM_001346941.2:c.1508_1511delinsCTGGTGG (EGFR) NP_001333870.1:p.Asp503_Asn504delinsAlaGl...
NM_001346899.2:c.2174_2177delinsCTGGTGG (EGFR) NP_001333828.1:p.Asp725_Asn726delinsAlaGl...