Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181221_55181222del , CM000669.2:g.55181221_55181222del	GRCh38
NC_000007.13:g.55248914_55248915del , CM000669.1:g.55248914_55248915del	GRCh37
NC_000007.12:g.55216408_55216409del	NCBI36
NG_007726.3:g.167190_167191del , LRG_304:g.167190_167191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2125-72_2125-71del (EGFR)	ENSP00000413354.2:n.2125-72_2125-71del
ENST00000700145.1:c.633-72_633-71del (EGFR)
ENST00000275493.7:c.2284-72_2284-71del (EGFR) MANE Select	ENSP00000275493.2:n.2284-72_2284-71del
ENST00000275493.6:c.2284-72_2284-71del (EGFR)	ENSP00000275493.2:n.2284-72_2284-71del
ENST00000442591.5:c.28+8293_28+8294del (EGFR)	ENSP00000410031.1:n.28+8293_28+8294del
ENST00000454757.6:c.2149-72_2149-71del (EGFR)	ENSP00000395243.3:n.2149-72_2149-71del
ENST00000455089.5:c.2149-72_2149-71del (EGFR)	ENSP00000415559.1:n.2149-72_2149-71del
NM_005228.3:c.2284-72_2284-71del , LRG_304t1:c.2284-72_2284-71del (EGFR)	NP_005219.2:n.2284-72_2284-71del
NR_047551.1:n.1349_1350del (EGFR-AS1)
NM_001346897.1:c.2149-72_2149-71del (EGFR)	NP_001333826.1:n.2149-72_2149-71del
NM_001346898.1:c.2284-72_2284-71del (EGFR)	NP_001333827.1:n.2284-72_2284-71del
NM_001346899.1:c.2149-72_2149-71del (EGFR)	NP_001333828.1:n.2149-72_2149-71del
NM_001346900.1:c.2125-72_2125-71del (EGFR)	NP_001333829.1:n.2125-72_2125-71del
NM_001346941.1:c.1483-72_1483-71del (EGFR)	NP_001333870.1:n.1483-72_1483-71del
NM_005228.4:c.2284-72_2284-71del (EGFR)	NP_005219.2:n.2284-72_2284-71del
NM_005228.5:c.2284-72_2284-71del (EGFR) MANE Select	NP_005219.2:n.2284-72_2284-71del
NM_001346897.2:c.2149-72_2149-71del (EGFR)	NP_001333826.1:n.2149-72_2149-71del
NM_001346898.2:c.2284-72_2284-71del (EGFR)	NP_001333827.1:n.2284-72_2284-71del
NM_001346900.2:c.2125-72_2125-71del (EGFR)	NP_001333829.1:n.2125-72_2125-71del
NM_001346941.2:c.1483-72_1483-71del (EGFR)	NP_001333870.1:n.1483-72_1483-71del
NM_001346899.2:c.2149-72_2149-71del (EGFR)	NP_001333828.1:n.2149-72_2149-71del