Canonical Allele Identifier: CA180585

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 177658
• ClinVar RCV Id: RCV000154246
• dbSNP Id: rs1554350347
• COSMIC: COSM12427
• MyVariant Identifiers: chr7:g.55249010_55249011insGTT (hg19) ; chr7:g.55181317_55181318insGTT (hg38)
• PubMed: PMID:16187797

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181317_55181318insGTT , CM000669.2:g.55181317_55181318insGTT	GRCh38
NC_000007.13:g.55249010_55249011insGTT , CM000669.1:g.55249010_55249011insGTT	GRCh37
NC_000007.12:g.55216504_55216505insGTT	NCBI36
NG_007726.3:g.167286_167287insGTT , LRG_304:g.167286_167287insGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2149_2150insGTT (EGFR)	ENSP00000413354.2:p.Asp717delinsGlyTyr
ENST00000700145.1:c.657_658insGTT (EGFR)
ENST00000275493.7:c.2308_2309insGTT (EGFR) MANE Select	ENSP00000275493.2:p.Asp770delinsGlyTyr
ENST00000275493.6:c.2308_2309insGTT (EGFR)	ENSP00000275493.2:p.Asp770delinsGlyTyr
ENST00000442591.5:c.*28+8389_*28+8390insGTT (EGFR)	ENSP00000410031.1:n.*28+8389_*28+8390insG...
ENST00000454757.6:c.2173_2174insGTT (EGFR)	ENSP00000395243.3:p.Asp725delinsGlyTyr
ENST00000455089.5:c.2173_2174insGTT (EGFR)	ENSP00000415559.1:p.Asp725delinsGlyTyr
NM_005228.3:c.2308_2309insGTT , LRG_304t1:c.2308_2309insGTT (EGFR)	NP_005219.2:p.Asp770delinsGlyTyr
NR_047551.1:n.1253_1254insAAC (EGFR-AS1)
NM_001346897.1:c.2173_2174insGTT (EGFR)	NP_001333826.1:p.Asp725delinsGlyTyr
NM_001346898.1:c.2308_2309insGTT (EGFR)	NP_001333827.1:p.Asp770delinsGlyTyr
NM_001346899.1:c.2173_2174insGTT (EGFR)	NP_001333828.1:p.Asp725delinsGlyTyr
NM_001346900.1:c.2149_2150insGTT (EGFR)	NP_001333829.1:p.Asp717delinsGlyTyr
NM_001346941.1:c.1507_1508insGTT (EGFR)	NP_001333870.1:p.Asp503delinsGlyTyr
NM_005228.4:c.2308_2309insGTT (EGFR)	NP_005219.2:p.Asp770delinsGlyTyr
NM_005228.5:c.2308_2309insGTT (EGFR) MANE Select	NP_005219.2:p.Asp770delinsGlyTyr
NM_001346897.2:c.2173_2174insGTT (EGFR)	NP_001333826.1:p.Asp725delinsGlyTyr
NM_001346898.2:c.2308_2309insGTT (EGFR)	NP_001333827.1:p.Asp770delinsGlyTyr
NM_001346900.2:c.2149_2150insGTT (EGFR)	NP_001333829.1:p.Asp717delinsGlyTyr
NM_001346941.2:c.1507_1508insGTT (EGFR)	NP_001333870.1:p.Asp503delinsGlyTyr
NM_001346899.2:c.2173_2174insGTT (EGFR)	NP_001333828.1:p.Asp725delinsGlyTyr