Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181223_55181226del , CM000669.2:g.55181223_55181226del	GRCh38
NC_000007.13:g.55248916_55248919del , CM000669.1:g.55248916_55248919del	GRCh37
NC_000007.12:g.55216410_55216413del	NCBI36
NG_007726.3:g.167192_167195del , LRG_304:g.167192_167195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2125-70_2125-67del (EGFR)	ENSP00000413354.2:n.2125-70_2125-67del
ENST00000700145.1:c.633-70_633-67del (EGFR)
ENST00000275493.7:c.2284-70_2284-67del (EGFR) MANE Select	ENSP00000275493.2:n.2284-70_2284-67del
ENST00000275493.6:c.2284-70_2284-67del (EGFR)	ENSP00000275493.2:n.2284-70_2284-67del
ENST00000442591.5:c.28+8295_28+8298del (EGFR)	ENSP00000410031.1:n.28+8295_28+8298del
ENST00000454757.6:c.2149-70_2149-67del (EGFR)	ENSP00000395243.3:n.2149-70_2149-67del
ENST00000455089.5:c.2149-70_2149-67del (EGFR)	ENSP00000415559.1:n.2149-70_2149-67del
NM_005228.3:c.2284-70_2284-67del , LRG_304t1:c.2284-70_2284-67del (EGFR)	NP_005219.2:n.2284-70_2284-67del
NR_047551.1:n.1347_1350del (EGFR-AS1)
NM_001346897.1:c.2149-70_2149-67del (EGFR)	NP_001333826.1:n.2149-70_2149-67del
NM_001346898.1:c.2284-70_2284-67del (EGFR)	NP_001333827.1:n.2284-70_2284-67del
NM_001346899.1:c.2149-70_2149-67del (EGFR)	NP_001333828.1:n.2149-70_2149-67del
NM_001346900.1:c.2125-70_2125-67del (EGFR)	NP_001333829.1:n.2125-70_2125-67del
NM_001346941.1:c.1483-70_1483-67del (EGFR)	NP_001333870.1:n.1483-70_1483-67del
NM_005228.4:c.2284-70_2284-67del (EGFR)	NP_005219.2:n.2284-70_2284-67del
NM_005228.5:c.2284-70_2284-67del (EGFR) MANE Select	NP_005219.2:n.2284-70_2284-67del
NM_001346897.2:c.2149-70_2149-67del (EGFR)	NP_001333826.1:n.2149-70_2149-67del
NM_001346898.2:c.2284-70_2284-67del (EGFR)	NP_001333827.1:n.2284-70_2284-67del
NM_001346900.2:c.2125-70_2125-67del (EGFR)	NP_001333829.1:n.2125-70_2125-67del
NM_001346941.2:c.1483-70_1483-67del (EGFR)	NP_001333870.1:n.1483-70_1483-67del
NM_001346899.2:c.2149-70_2149-67del (EGFR)	NP_001333828.1:n.2149-70_2149-67del