Canonical Allele Identifier: CA839816960

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1425681720
• gnomAD v4: 7-55181115-TCAC-T
• MyVariant Identifiers: chr7:g.55248809_55248811del (hg19) ; chr7:g.55181116_55181118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181116_55181118del , CM000669.2:g.55181116_55181118del	GRCh38
NC_000007.13:g.55248809_55248811del , CM000669.1:g.55248809_55248811del	GRCh37
NC_000007.12:g.55216303_55216305del	NCBI36
NG_007726.3:g.167085_167087del , LRG_304:g.167085_167087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2125-177_2125-175del (EGFR)	ENSP00000413354.2:n.2125-177_2125-175del
ENST00000700145.1:c.633-177_633-175del (EGFR)
ENST00000275493.7:c.2284-177_2284-175del (EGFR) MANE Select	ENSP00000275493.2:n.2284-177_2284-175del
ENST00000275493.6:c.2284-177_2284-175del (EGFR)	ENSP00000275493.2:n.2284-177_2284-175del
ENST00000442591.5:c.*28+8188_*28+8190del (EGFR)	ENSP00000410031.1:n.*28+8188_*28+8190del
ENST00000454757.6:c.2149-177_2149-175del (EGFR)	ENSP00000395243.3:n.2149-177_2149-175del
ENST00000455089.5:c.2149-177_2149-175del (EGFR)	ENSP00000415559.1:n.2149-177_2149-175del
NM_005228.3:c.2284-177_2284-175del , LRG_304t1:c.2284-177_2284-175del (EGFR)	NP_005219.2:n.2284-177_2284-175del
NR_047551.1:n.1453_1455del (EGFR-AS1)
NM_001346897.1:c.2149-177_2149-175del (EGFR)	NP_001333826.1:n.2149-177_2149-175del
NM_001346898.1:c.2284-177_2284-175del (EGFR)	NP_001333827.1:n.2284-177_2284-175del
NM_001346899.1:c.2149-177_2149-175del (EGFR)	NP_001333828.1:n.2149-177_2149-175del
NM_001346900.1:c.2125-177_2125-175del (EGFR)	NP_001333829.1:n.2125-177_2125-175del
NM_001346941.1:c.1483-177_1483-175del (EGFR)	NP_001333870.1:n.1483-177_1483-175del
NM_005228.4:c.2284-177_2284-175del (EGFR)	NP_005219.2:n.2284-177_2284-175del
NM_005228.5:c.2284-177_2284-175del (EGFR) MANE Select	NP_005219.2:n.2284-177_2284-175del
NM_001346897.2:c.2149-177_2149-175del (EGFR)	NP_001333826.1:n.2149-177_2149-175del
NM_001346898.2:c.2284-177_2284-175del (EGFR)	NP_001333827.1:n.2284-177_2284-175del
NM_001346900.2:c.2125-177_2125-175del (EGFR)	NP_001333829.1:n.2125-177_2125-175del
NM_001346941.2:c.1483-177_1483-175del (EGFR)	NP_001333870.1:n.1483-177_1483-175del
NM_001346899.2:c.2149-177_2149-175del (EGFR)	NP_001333828.1:n.2149-177_2149-175del