Canonical Allele Identifier: CA658795342

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 496810
• ClinVar RCV Id: RCV000595622
• dbSNP Id: rs1554350382
• MyVariant Identifiers: chr7:g.55249011_55249012insGTC (hg19) ; chr7:g.55181318_55181319insGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181318_55181319insGTC , CM000669.2:g.55181318_55181319insGTC	GRCh38
NC_000007.13:g.55249011_55249012insGTC , CM000669.1:g.55249011_55249012insGTC	GRCh37
NC_000007.12:g.55216505_55216506insGTC	NCBI36
NG_007726.3:g.167287_167288insGTC , LRG_304:g.167287_167288insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2150_2151insGTC (EGFR)	ENSP00000413354.2:p.Asp717delinsGluSer
ENST00000700145.1:c.658_659insGTC (EGFR)
ENST00000275493.7:c.2309_2310insGTC (EGFR) MANE Select	ENSP00000275493.2:p.Asp770delinsGluSer
ENST00000275493.6:c.2309_2310insGTC (EGFR)	ENSP00000275493.2:p.Asp770delinsGluSer
ENST00000442591.5:c.*28+8390_*28+8391insGTC (EGFR)	ENSP00000410031.1:n.*28+8390_*28+8391insGTC
ENST00000454757.6:c.2174_2175insGTC (EGFR)	ENSP00000395243.3:p.Asp725delinsGluSer
ENST00000455089.5:c.2174_2175insGTC (EGFR)	ENSP00000415559.1:p.Asp725delinsGluSer
NM_005228.3:c.2309_2310insGTC , LRG_304t1:c.2309_2310insGTC (EGFR)	NP_005219.2:p.Asp770delinsGluSer
NR_047551.1:n.1252_1253insGAC (EGFR-AS1)
NM_001346897.1:c.2174_2175insGTC (EGFR)	NP_001333826.1:p.Asp725delinsGluSer
NM_001346898.1:c.2309_2310insGTC (EGFR)	NP_001333827.1:p.Asp770delinsGluSer
NM_001346899.1:c.2174_2175insGTC (EGFR)	NP_001333828.1:p.Asp725delinsGluSer
NM_001346900.1:c.2150_2151insGTC (EGFR)	NP_001333829.1:p.Asp717delinsGluSer
NM_001346941.1:c.1508_1509insGTC (EGFR)	NP_001333870.1:p.Asp503delinsGluSer
NM_005228.4:c.2309_2310insGTC (EGFR)	NP_005219.2:p.Asp770delinsGluSer
NM_005228.5:c.2309_2310insGTC (EGFR) MANE Select	NP_005219.2:p.Asp770delinsGluSer
NM_001346897.2:c.2174_2175insGTC (EGFR)	NP_001333826.1:p.Asp725delinsGluSer
NM_001346898.2:c.2309_2310insGTC (EGFR)	NP_001333827.1:p.Asp770delinsGluSer
NM_001346900.2:c.2150_2151insGTC (EGFR)	NP_001333829.1:p.Asp717delinsGluSer
NM_001346941.2:c.1508_1509insGTC (EGFR)	NP_001333870.1:p.Asp503delinsGluSer
NM_001346899.2:c.2174_2175insGTC (EGFR)	NP_001333828.1:p.Asp725delinsGluSer