Canonical Allele Identifier: CA1101520592

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1786826327
• gnomAD v3: 7-55180801-C-CTTCTCCAT
• gnomAD v4: 7-55180801-C-CTTCTCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55180802_55180809dup , CM000669.2:g.55180802_55180809dup	GRCh38
NC_000007.13:g.55248495_55248502dup , CM000669.1:g.55248495_55248502dup	GRCh37
NC_000007.12:g.55215989_55215996dup	NCBI36
NG_007726.3:g.166771_166778dup , LRG_304:g.166771_166778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2125-491_2125-484dup (EGFR)	ENSP00000413354.2:n.2125-491_2125-484dup
ENST00000700145.1:c.633-491_633-484dup (EGFR)
ENST00000275493.7:c.2284-491_2284-484dup (EGFR) MANE Select	ENSP00000275493.2:n.2284-491_2284-484dup
ENST00000275493.6:c.2284-491_2284-484dup (EGFR)	ENSP00000275493.2:n.2284-491_2284-484dup
ENST00000442591.5:c.*28+7874_*28+7881dup (EGFR)	ENSP00000410031.1:n.*28+7874_*28+7881dup
ENST00000454757.6:c.2149-491_2149-484dup (EGFR)	ENSP00000395243.3:n.2149-491_2149-484dup
ENST00000455089.5:c.2149-491_2149-484dup (EGFR)	ENSP00000415559.1:n.2149-491_2149-484dup
NM_005228.3:c.2284-491_2284-484dup , LRG_304t1:c.2284-491_2284-484dup (EGFR)	NP_005219.2:n.2284-491_2284-484dup
NR_047551.1:n.1762_1769dup (EGFR-AS1)
NM_001346897.1:c.2149-491_2149-484dup (EGFR)	NP_001333826.1:n.2149-491_2149-484dup
NM_001346898.1:c.2284-491_2284-484dup (EGFR)	NP_001333827.1:n.2284-491_2284-484dup
NM_001346899.1:c.2149-491_2149-484dup (EGFR)	NP_001333828.1:n.2149-491_2149-484dup
NM_001346900.1:c.2125-491_2125-484dup (EGFR)	NP_001333829.1:n.2125-491_2125-484dup
NM_001346941.1:c.1483-491_1483-484dup (EGFR)	NP_001333870.1:n.1483-491_1483-484dup
NM_005228.4:c.2284-491_2284-484dup (EGFR)	NP_005219.2:n.2284-491_2284-484dup
NM_005228.5:c.2284-491_2284-484dup (EGFR) MANE Select	NP_005219.2:n.2284-491_2284-484dup
NM_001346897.2:c.2149-491_2149-484dup (EGFR)	NP_001333826.1:n.2149-491_2149-484dup
NM_001346898.2:c.2284-491_2284-484dup (EGFR)	NP_001333827.1:n.2284-491_2284-484dup
NM_001346900.2:c.2125-491_2125-484dup (EGFR)	NP_001333829.1:n.2125-491_2125-484dup
NM_001346941.2:c.1483-491_1483-484dup (EGFR)	NP_001333870.1:n.1483-491_1483-484dup
NM_001346899.2:c.2149-491_2149-484dup (EGFR)	NP_001333828.1:n.2149-491_2149-484dup