Canonical Allele Identifier: CA2682854275

Gene: EGFR EGFR-AS1

Linked Data

• gnomAD v4: 7-55180809-TCGCTTGTCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55180810_55180820del , CM000669.2:g.55180810_55180820del	GRCh38
NC_000007.13:g.55248503_55248513del , CM000669.1:g.55248503_55248513del	GRCh37
NC_000007.12:g.55215997_55216007del	NCBI36
NG_007726.3:g.166779_166789del , LRG_304:g.166779_166789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2125-483_2125-473del (EGFR)	ENSP00000413354.2:n.2125-483_2125-473del
ENST00000700145.1:c.633-483_633-473del (EGFR)
ENST00000275493.7:c.2284-483_2284-473del (EGFR) MANE Select	ENSP00000275493.2:n.2284-483_2284-473del
ENST00000275493.6:c.2284-483_2284-473del (EGFR)	ENSP00000275493.2:n.2284-483_2284-473del
ENST00000442591.5:c.*28+7882_*28+7892del (EGFR)	ENSP00000410031.1:n.*28+7882_*28+7892del
ENST00000454757.6:c.2149-483_2149-473del (EGFR)	ENSP00000395243.3:n.2149-483_2149-473del
ENST00000455089.5:c.2149-483_2149-473del (EGFR)	ENSP00000415559.1:n.2149-483_2149-473del
NM_005228.3:c.2284-483_2284-473del , LRG_304t1:c.2284-483_2284-473del (EGFR)	NP_005219.2:n.2284-483_2284-473del
NR_047551.1:n.1751_1761del (EGFR-AS1)
NM_001346897.1:c.2149-483_2149-473del (EGFR)	NP_001333826.1:n.2149-483_2149-473del
NM_001346898.1:c.2284-483_2284-473del (EGFR)	NP_001333827.1:n.2284-483_2284-473del
NM_001346899.1:c.2149-483_2149-473del (EGFR)	NP_001333828.1:n.2149-483_2149-473del
NM_001346900.1:c.2125-483_2125-473del (EGFR)	NP_001333829.1:n.2125-483_2125-473del
NM_001346941.1:c.1483-483_1483-473del (EGFR)	NP_001333870.1:n.1483-483_1483-473del
NM_005228.4:c.2284-483_2284-473del (EGFR)	NP_005219.2:n.2284-483_2284-473del
NM_005228.5:c.2284-483_2284-473del (EGFR) MANE Select	NP_005219.2:n.2284-483_2284-473del
NM_001346897.2:c.2149-483_2149-473del (EGFR)	NP_001333826.1:n.2149-483_2149-473del
NM_001346898.2:c.2284-483_2284-473del (EGFR)	NP_001333827.1:n.2284-483_2284-473del
NM_001346900.2:c.2125-483_2125-473del (EGFR)	NP_001333829.1:n.2125-483_2125-473del
NM_001346941.2:c.1483-483_1483-473del (EGFR)	NP_001333870.1:n.1483-483_1483-473del
NM_001346899.2:c.2149-483_2149-473del (EGFR)	NP_001333828.1:n.2149-483_2149-473del