Canonical Allele Identifier: CA180569
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 177649
ClinVar RCV Id: RCV000154236
dbSNP Id: rs121913442
COSMIC: COSM12369 COSM23571
MyVariant Identifiers: chr7:g.55242470_55242484del (hg19) chr7:g.55174777_55174791del (hg38)
PubMed: PMID:15118073 PMID:15118125
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174777_55174791del , CM000669.2:g.55174777_55174791del GRCh38
NC_000007.13:g.55242470_55242484del , CM000669.1:g.55242470_55242484del GRCh37
NC_000007.12:g.55209964_55209978del NCBI36
NG_007726.3:g.160746_160760del , LRG_304:g.160746_160760del

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2081_2095del ENSP00000413354.2:p.Leu694_Thr698del
ENST00000700145.1:c.589_603del
ENST00000275493.7:c.2240_2254del MANE Select ENSP00000275493.2:p.Leu747_Thr751del
ENST00000275493.6:c.2240_2254del ENSP00000275493.2:p.Leu747_Thr751del
ENST00000442591.5:c.*28+1849_*28+1863del ENSP00000410031.1:n.*28+1849_*28+1863del
ENST00000454757.6:c.2105_2119del ENSP00000395243.3:p.Leu702_Thr706del
ENST00000455089.5:c.2105_2119del ENSP00000415559.1:p.Leu702_Thr706del
NM_005228.3:c.2240_2254del , LRG_304t1:c.2240_2254del NP_005219.2:p.Leu747_Thr751del
NM_001346897.1:c.2105_2119del NP_001333826.1:p.Leu702_Thr706del
NM_001346898.1:c.2240_2254del NP_001333827.1:p.Leu747_Thr751del
NM_001346899.1:c.2105_2119del NP_001333828.1:p.Leu702_Thr706del
NM_001346900.1:c.2081_2095del NP_001333829.1:p.Leu694_Thr698del
NM_001346941.1:c.1439_1453del NP_001333870.1:p.Leu480_Thr484del
NM_005228.4:c.2240_2254del NP_005219.2:p.Leu747_Thr751del
NM_005228.5:c.2240_2254del MANE Select NP_005219.2:p.Leu747_Thr751del
NM_001346897.2:c.2105_2119del NP_001333826.1:p.Leu702_Thr706del
NM_001346898.2:c.2240_2254del NP_001333827.1:p.Leu747_Thr751del
NM_001346900.2:c.2081_2095del NP_001333829.1:p.Leu694_Thr698del
NM_001346941.2:c.1439_1453del NP_001333870.1:p.Leu480_Thr484del
NM_001346899.2:c.2105_2119del NP_001333828.1:p.Leu702_Thr706del
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