Canonical Allele Identifier: CA2573320521
Community Standard Title: NM_005228.5(EGFR):c.2318_2320delinsTCA (p.His773_Val774delinsLeuMet)
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181327_55181329delinsTCA , CM000669.2:g.55181327_55181329delinsTCA GRCh38
NC_000007.13:g.55249020_55249022delinsTCA , CM000669.1:g.55249020_55249022delinsTCA GRCh37
NC_000007.12:g.55216514_55216516delinsTCA NCBI36
NG_007726.3:g.167296_167298delinsTCA , LRG_304:g.167296_167298delinsTCA

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2318_2320delinsTCA (EGFR) MANE Select NP_005219.2:p.His773_Val774delinsLeuMet
ENST00000275493.7:c.2318_2320delinsTCA (EGFR) MANE Select ENSP00000275493.2:p.His773_Val774delinsLeuMet
NM_001346897.1:c.2183_2185delinsTCA (EGFR) NP_001333826.1:p.His728_Val729delinsLeuMet
NM_001346897.2:c.2183_2185delinsTCA (EGFR) NP_001333826.1:p.His728_Val729delinsLeuMet
NM_001346898.1:c.2318_2320delinsTCA (EGFR) NP_001333827.1:p.His773_Val774delinsLeuMet
NM_001346898.2:c.2318_2320delinsTCA (EGFR) NP_001333827.1:p.His773_Val774delinsLeuMet
NM_001346899.1:c.2183_2185delinsTCA (EGFR) NP_001333828.1:p.His728_Val729delinsLeuMet
NM_001346899.2:c.2183_2185delinsTCA (EGFR) NP_001333828.1:p.His728_Val729delinsLeuMet
NM_001346900.1:c.2159_2161delinsTCA (EGFR) NP_001333829.1:p.His720_Val721delinsLeuMet
NM_001346900.2:c.2159_2161delinsTCA (EGFR) NP_001333829.1:p.His720_Val721delinsLeuMet
NM_001346941.1:c.1517_1519delinsTCA (EGFR) NP_001333870.1:p.His506_Val507delinsLeuMet
NM_001346941.2:c.1517_1519delinsTCA (EGFR) NP_001333870.1:p.His506_Val507delinsLeuMet
NM_005228.3:c.2318_2320delinsTCA , LRG_304t1:c.2318_2320delinsTCA (EGFR) NP_005219.2:p.His773_Val774delinsLeuMet
NM_005228.4:c.2318_2320delinsTCA (EGFR) NP_005219.2:p.His773_Val774delinsLeuMet
NR_047551.1:n.1242_1244delinsTGA (EGFR-AS1)
ENST00000275493.6:c.2318_2320delinsTCA (EGFR) ENSP00000275493.2:p.His773_Val774delinsLeuMet
ENST00000442591.5:c.*28+8399_*28+8401delinsTCA (EGFR) ENSP00000410031.1:n.*28+8399_*28+8401delinsTCA
ENST00000450046.2:c.2159_2161delinsTCA (EGFR) ENSP00000413354.2:p.His720_Val721delinsLeuMet
ENST00000454757.6:c.2183_2185delinsTCA (EGFR) ENSP00000395243.3:p.His728_Val729delinsLeuMet
ENST00000455089.5:c.2183_2185delinsTCA (EGFR) ENSP00000415559.1:p.His728_Val729delinsLeuMet
ENST00000700145.1:c.667_669delinsTCA (EGFR)