Canonical Allele Identifier: CA1708922646
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1043841
ClinVar RCV Id: RCV001348004
dbSNP Id: rs1787409872

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191826del , CM000669.2:g.55191826del GRCh38
NC_000007.13:g.55259519del , CM000669.1:g.55259519del GRCh37
NC_000007.12:g.55227013del NCBI36
NG_007726.3:g.177795del , LRG_304:g.177795del

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2577del MANE Select ENSP00000275493.2:p.Lys860AsnfsTer?
ENST00000275493.6:c.2577del ENSP00000275493.2:p.Lys860AsnfsTer?
ENST00000442591.5:c.*28+18898del ENSP00000410031.1:n.*28+18898del
ENST00000454757.6:c.2442del ENSP00000395243.3:p.Lys815AsnfsTer?
ENST00000455089.5:c.2442del ENSP00000415559.1:p.Lys815AsnfsTer?
NM_005228.3:c.2577del , LRG_304t1:c.2577del NP_005219.2:p.Lys860AsnfsTer?
NM_001346897.1:c.2442del NP_001333826.1:p.Lys815AsnfsTer?
NM_001346898.1:c.2577del NP_001333827.1:p.Lys860AsnfsTer?
NM_001346899.1:c.2442del NP_001333828.1:p.Lys815AsnfsTer?
NM_001346900.1:c.2418del NP_001333829.1:p.Lys807AsnfsTer?
NM_001346941.1:c.1776del NP_001333870.1:p.Lys593AsnfsTer?
NM_005228.4:c.2577del NP_005219.2:p.Lys860AsnfsTer?
NM_005228.5:c.2577del MANE Select NP_005219.2:p.Lys860AsnfsTer?
NM_001346897.2:c.2442del NP_001333826.1:p.Lys815AsnfsTer?
NM_001346898.2:c.2577del NP_001333827.1:p.Lys860AsnfsTer?
NM_001346900.2:c.2418del NP_001333829.1:p.Lys807AsnfsTer?
NM_001346941.2:c.1776del NP_001333870.1:p.Lys593AsnfsTer?
NM_001346899.2:c.2442del NP_001333828.1:p.Lys815AsnfsTer?