Canonical Allele Identifier: CA1708904248

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1786837826
• gnomAD v4: 7-55181004-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181010_55181012del , CM000669.2:g.55181010_55181012del	GRCh38
NC_000007.13:g.55248703_55248705del , CM000669.1:g.55248703_55248705del	GRCh37
NC_000007.12:g.55216197_55216199del	NCBI36
NG_007726.3:g.166979_166981del , LRG_304:g.166979_166981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2125-283_2125-281del (EGFR)	ENSP00000413354.2:n.2125-283_2125-281del
ENST00000700145.1:c.633-283_633-281del (EGFR)
ENST00000275493.7:c.2284-283_2284-281del (EGFR) MANE Select	ENSP00000275493.2:n.2284-283_2284-281del
ENST00000275493.6:c.2284-283_2284-281del (EGFR)	ENSP00000275493.2:n.2284-283_2284-281del
ENST00000442591.5:c.*28+8082_*28+8084del (EGFR)	ENSP00000410031.1:n.*28+8082_*28+8084del
ENST00000454757.6:c.2149-283_2149-281del (EGFR)	ENSP00000395243.3:n.2149-283_2149-281del
ENST00000455089.5:c.2149-283_2149-281del (EGFR)	ENSP00000415559.1:n.2149-283_2149-281del
NM_005228.3:c.2284-283_2284-281del , LRG_304t1:c.2284-283_2284-281del (EGFR)	NP_005219.2:n.2284-283_2284-281del
NR_047551.1:n.1564_1566del (EGFR-AS1)
NM_001346897.1:c.2149-283_2149-281del (EGFR)	NP_001333826.1:n.2149-283_2149-281del
NM_001346898.1:c.2284-283_2284-281del (EGFR)	NP_001333827.1:n.2284-283_2284-281del
NM_001346899.1:c.2149-283_2149-281del (EGFR)	NP_001333828.1:n.2149-283_2149-281del
NM_001346900.1:c.2125-283_2125-281del (EGFR)	NP_001333829.1:n.2125-283_2125-281del
NM_001346941.1:c.1483-283_1483-281del (EGFR)	NP_001333870.1:n.1483-283_1483-281del
NM_005228.4:c.2284-283_2284-281del (EGFR)	NP_005219.2:n.2284-283_2284-281del
NM_005228.5:c.2284-283_2284-281del (EGFR) MANE Select	NP_005219.2:n.2284-283_2284-281del
NM_001346897.2:c.2149-283_2149-281del (EGFR)	NP_001333826.1:n.2149-283_2149-281del
NM_001346898.2:c.2284-283_2284-281del (EGFR)	NP_001333827.1:n.2284-283_2284-281del
NM_001346900.2:c.2125-283_2125-281del (EGFR)	NP_001333829.1:n.2125-283_2125-281del
NM_001346941.2:c.1483-283_1483-281del (EGFR)	NP_001333870.1:n.1483-283_1483-281del
NM_001346899.2:c.2149-283_2149-281del (EGFR)	NP_001333828.1:n.2149-283_2149-281del