Canonical Allele Identifier: CA180767

Gene: EGFR

Linked Data

• ClinVar Variation Id: 177787
• ClinVar RCV Id: RCV000154414
• dbSNP Id: rs727504324
• MyVariant Identifiers: chr7:g.55242462_55242480del (hg19) ; chr7:g.55174769_55174787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174769_55174787del , CM000669.2:g.55174769_55174787del	GRCh38
NC_000007.13:g.55242462_55242480del , CM000669.1:g.55242462_55242480del	GRCh37
NC_000007.12:g.55209956_55209974del	NCBI36
NG_007726.3:g.160738_160756del , LRG_304:g.160738_160756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2073_2091del	ENSP00000413354.2:p.Lys692HisfsTer15
ENST00000700145.1:c.581_599del
ENST00000275493.7:c.2232_2250del MANE Select	ENSP00000275493.2:p.Lys745HisfsTer15
ENST00000275493.6:c.2232_2250del	ENSP00000275493.2:p.Lys745HisfsTer15
ENST00000442591.5:c.*28+1841_*28+1859del	ENSP00000410031.1:n.*28+1841_*28+1859del
ENST00000454757.6:c.2097_2115del	ENSP00000395243.3:p.Lys700HisfsTer15
ENST00000455089.5:c.2097_2115del	ENSP00000415559.1:p.Lys700HisfsTer15
NM_005228.3:c.2232_2250del , LRG_304t1:c.2232_2250del	NP_005219.2:p.Lys745HisfsTer15
NM_001346897.1:c.2097_2115del	NP_001333826.1:p.Lys700HisfsTer15
NM_001346898.1:c.2232_2250del	NP_001333827.1:p.Lys745HisfsTer15
NM_001346899.1:c.2097_2115del	NP_001333828.1:p.Lys700HisfsTer15
NM_001346900.1:c.2073_2091del	NP_001333829.1:p.Lys692HisfsTer15
NM_001346941.1:c.1431_1449del	NP_001333870.1:p.Lys478HisfsTer15
NM_005228.4:c.2232_2250del	NP_005219.2:p.Lys745HisfsTer15
NM_005228.5:c.2232_2250del MANE Select	NP_005219.2:p.Lys745HisfsTer15
NM_001346897.2:c.2097_2115del	NP_001333826.1:p.Lys700HisfsTer15
NM_001346898.2:c.2232_2250del	NP_001333827.1:p.Lys745HisfsTer15
NM_001346900.2:c.2073_2091del	NP_001333829.1:p.Lys692HisfsTer15
NM_001346941.2:c.1431_1449del	NP_001333870.1:p.Lys478HisfsTer15
NM_001346899.2:c.2097_2115del	NP_001333828.1:p.Lys700HisfsTer15