Canonical Allele Identifier: CA135830

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45245
• ClinVar RCV Id: RCV000038401
• dbSNP Id: rs1554348955
• MyVariant Identifiers: chr7:g.55242525_55242660del (hg19) ; chr7:g.55174832_55174967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174832_55174967del , CM000669.2:g.55174832_55174967del	GRCh38
NC_000007.13:g.55242525_55242660del , CM000669.1:g.55242525_55242660del	GRCh37
NC_000007.12:g.55210019_55210154del	NCBI36
NG_007726.3:g.160801_160936del , LRG_304:g.160801_160936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2124+12_2124+147del	ENSP00000413354.2:n.2124+12_2124+147del
ENST00000700145.1:c.632+12_632+147del
ENST00000275493.7:c.2283+12_2283+147del MANE Select	ENSP00000275493.2:n.2283+12_2283+147del
ENST00000275493.6:c.2283+12_2283+147del	ENSP00000275493.2:n.2283+12_2283+147del
ENST00000442591.5:c.*28+1904_*28+2039del	ENSP00000410031.1:n.*28+1904_*28+2039del
ENST00000454757.6:c.2148+12_2148+147del	ENSP00000395243.3:n.2148+12_2148+147del
ENST00000455089.5:c.2148+12_2148+147del	ENSP00000415559.1:n.2148+12_2148+147del
NM_005228.3:c.2283+12_2283+147del , LRG_304t1:c.2283+12_2283+147del	NP_005219.2:n.2283+12_2283+147del
NM_001346897.1:c.2148+12_2148+147del	NP_001333826.1:n.2148+12_2148+147del
NM_001346898.1:c.2283+12_2283+147del	NP_001333827.1:n.2283+12_2283+147del
NM_001346899.1:c.2148+12_2148+147del	NP_001333828.1:n.2148+12_2148+147del
NM_001346900.1:c.2124+12_2124+147del	NP_001333829.1:n.2124+12_2124+147del
NM_001346941.1:c.1482+12_1482+147del	NP_001333870.1:n.1482+12_1482+147del
NM_005228.4:c.2283+12_2283+147del	NP_005219.2:n.2283+12_2283+147del
NM_005228.5:c.2283+12_2283+147del MANE Select	NP_005219.2:n.2283+12_2283+147del
NM_001346897.2:c.2148+12_2148+147del	NP_001333826.1:n.2148+12_2148+147del
NM_001346898.2:c.2283+12_2283+147del	NP_001333827.1:n.2283+12_2283+147del
NM_001346900.2:c.2124+12_2124+147del	NP_001333829.1:n.2124+12_2124+147del
NM_001346941.2:c.1482+12_1482+147del	NP_001333870.1:n.1482+12_1482+147del
NM_001346899.2:c.2148+12_2148+147del	NP_001333828.1:n.2148+12_2148+147del