Canonical Allele Identifier: CA176007

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 163373
• ClinVar RCV Id: RCV000150622
• dbSNP Id: rs1554350337
• MyVariant Identifiers: chr7:g.55248992_55248993insACCATC (hg19) ; chr7:g.55181299_55181300insACCATC (hg38)
• PubMed: PMID:16187797

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181301_55181302insCATCAC , CM000669.2:g.55181301_55181302insCATCAC	GRCh38
NC_000007.13:g.55248994_55248995insCATCAC , CM000669.1:g.55248994_55248995insCATCAC	GRCh37
NC_000007.12:g.55216488_55216489insCATCAC	NCBI36
NG_007726.3:g.167270_167271insCATCAC , LRG_304:g.167270_167271insCATCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2133_2134insCATCAC (EGFR)	ENSP00000413354.2:p.Tyr711_Val712insHisHis
ENST00000700145.1:c.641_642insCATCAC (EGFR)
ENST00000275493.7:c.2292_2293insCATCAC (EGFR) MANE Select	ENSP00000275493.2:p.Tyr764_Val765insHisHis
ENST00000275493.6:c.2292_2293insCATCAC (EGFR)	ENSP00000275493.2:p.Tyr764_Val765insHisHis
ENST00000442591.5:c.*28+8373_*28+8374insCATCAC (EGFR)	ENSP00000410031.1:n.*28+8373_*28+8374insCATCAC
ENST00000454757.6:c.2157_2158insCATCAC (EGFR)	ENSP00000395243.3:p.Tyr719_Val720insHisHis
ENST00000455089.5:c.2157_2158insCATCAC (EGFR)	ENSP00000415559.1:p.Tyr719_Val720insHisHis
NM_005228.3:c.2292_2293insCATCAC , LRG_304t1:c.2292_2293insCATCAC (EGFR)	NP_005219.2:p.Tyr764_Val765insHisHis
NR_047551.1:n.1271_1272insGATGGT (EGFR-AS1)
NM_001346897.1:c.2157_2158insCATCAC (EGFR)	NP_001333826.1:p.Tyr719_Val720insHisHis
NM_001346898.1:c.2292_2293insCATCAC (EGFR)	NP_001333827.1:p.Tyr764_Val765insHisHis
NM_001346899.1:c.2157_2158insCATCAC (EGFR)	NP_001333828.1:p.Tyr719_Val720insHisHis
NM_001346900.1:c.2133_2134insCATCAC (EGFR)	NP_001333829.1:p.Tyr711_Val712insHisHis
NM_001346941.1:c.1491_1492insCATCAC (EGFR)	NP_001333870.1:p.Tyr497_Val498insHisHis
NM_005228.4:c.2292_2293insCATCAC (EGFR)	NP_005219.2:p.Tyr764_Val765insHisHis
NM_005228.5:c.2292_2293insCATCAC (EGFR) MANE Select	NP_005219.2:p.Tyr764_Val765insHisHis
NM_001346897.2:c.2157_2158insCATCAC (EGFR)	NP_001333826.1:p.Tyr719_Val720insHisHis
NM_001346898.2:c.2292_2293insCATCAC (EGFR)	NP_001333827.1:p.Tyr764_Val765insHisHis
NM_001346900.2:c.2133_2134insCATCAC (EGFR)	NP_001333829.1:p.Tyr711_Val712insHisHis
NM_001346941.2:c.1491_1492insCATCAC (EGFR)	NP_001333870.1:p.Tyr497_Val498insHisHis
NM_001346899.2:c.2157_2158insCATCAC (EGFR)	NP_001333828.1:p.Tyr719_Val720insHisHis