Canonical Allele Identifier: CA4266237

Gene: EGFR

Linked Data

• dbSNP Id: rs760292181
• ExAC: 7:55268943 TGAA / T
• gnomAD v2: 7-55268943-TGAA-T
• gnomAD v4: 7-55201250-TGAA-T
• MyVariant Identifiers: chr7:g.55268944_55268946del (hg19) ; chr7:g.55201251_55201253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201256_55201258del , CM000669.2:g.55201256_55201258del	GRCh38
NC_000007.13:g.55268949_55268951del , CM000669.1:g.55268949_55268951del	GRCh37
NC_000007.12:g.55236443_55236445del	NCBI36
NG_007726.3:g.187225_187227del , LRG_304:g.187225_187227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2856_2858del	ENSP00000413354.2:p.Glu952del
ENST00000700145.1:c.900-4091_900-4089del
ENST00000700146.1:n.759_761del
ENST00000700147.1:n.684_686del
ENST00000275493.7:c.3015_3017del MANE Select	ENSP00000275493.2:p.Glu1005del
ENST00000275493.6:c.3015_3017del	ENSP00000275493.2:p.Glu1005del
ENST00000442591.5:c.*28+28328_*28+28330del	ENSP00000410031.1:n.*28+28328_*28+28330del
ENST00000454757.6:c.2880_2882del	ENSP00000395243.3:p.Glu960del
ENST00000455089.5:c.2880_2882del	ENSP00000415559.1:p.Glu960del
NM_005228.3:c.3015_3017del , LRG_304t1:c.3015_3017del	NP_005219.2:p.Glu1005del
NM_001346897.1:c.2880_2882del	NP_001333826.1:p.Glu960del
NM_001346898.1:c.3015_3017del	NP_001333827.1:p.Glu1005del
NM_001346899.1:c.2880_2882del	NP_001333828.1:p.Glu960del
NM_001346900.1:c.2856_2858del	NP_001333829.1:p.Glu952del
NM_001346941.1:c.2214_2216del	NP_001333870.1:p.Glu738del
NM_005228.4:c.3015_3017del	NP_005219.2:p.Glu1005del
NM_005228.5:c.3015_3017del MANE Select	NP_005219.2:p.Glu1005del
NM_001346897.2:c.2880_2882del	NP_001333826.1:p.Glu960del
NM_001346898.2:c.3015_3017del	NP_001333827.1:p.Glu1005del
NM_001346900.2:c.2856_2858del	NP_001333829.1:p.Glu952del
NM_001346941.2:c.2214_2216del	NP_001333870.1:p.Glu738del
NM_001346899.2:c.2880_2882del	NP_001333828.1:p.Glu960del