Canonical Allele Identifier: CA3263315150

Gene: EGFR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191747_55191834del , CM000669.2:g.55191747_55191834del	GRCh38
NC_000007.13:g.55259440_55259527del , CM000669.1:g.55259440_55259527del	GRCh37
NC_000007.12:g.55226934_55227021del	NCBI36
NG_007726.3:g.177716_177803del , LRG_304:g.177716_177803del

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.2498_2585del MANE Select	NP_005219.2:p.Leu833TrpfsTer?
ENST00000275493.7:c.2498_2585del MANE Select	ENSP00000275493.2:p.Leu833TrpfsTer?
NM_001346897.1:c.2363_2450del	NP_001333826.1:p.Leu788TrpfsTer?
NM_001346897.2:c.2363_2450del	NP_001333826.1:p.Leu788TrpfsTer?
NM_001346898.1:c.2498_2585del	NP_001333827.1:p.Leu833TrpfsTer?
NM_001346898.2:c.2498_2585del	NP_001333827.1:p.Leu833TrpfsTer?
NM_001346899.1:c.2363_2450del	NP_001333828.1:p.Leu788TrpfsTer?
NM_001346899.2:c.2363_2450del	NP_001333828.1:p.Leu788TrpfsTer?
NM_001346900.1:c.2339_2426del	NP_001333829.1:p.Leu780TrpfsTer?
NM_001346900.2:c.2339_2426del	NP_001333829.1:p.Leu780TrpfsTer?
NM_001346941.1:c.1697_1784del	NP_001333870.1:p.Leu566TrpfsTer?
NM_001346941.2:c.1697_1784del	NP_001333870.1:p.Leu566TrpfsTer?
NM_005228.3:c.2498_2585del , LRG_304t1:c.2498_2585del	NP_005219.2:p.Leu833TrpfsTer?
NM_005228.4:c.2498_2585del	NP_005219.2:p.Leu833TrpfsTer?
ENST00000275493.6:c.2498_2585del	ENSP00000275493.2:p.Leu833TrpfsTer?
ENST00000442591.5:c.*28+18819_*28+18906del	ENSP00000410031.1:n.*28+18819_*28+18906del
ENST00000450046.2:c.2339_2426del	ENSP00000413354.2:p.Leu780TrpfsTer?
ENST00000454757.6:c.2363_2450del	ENSP00000395243.3:p.Leu788TrpfsTer?
ENST00000455089.5:c.2363_2450del	ENSP00000415559.1:p.Leu788TrpfsTer?
ENST00000700145.1:c.847_899+35del