Canonical Allele Identifier: CA645550320

Gene: EGFR

Linked Data

• gnomAD v4: 7-55174751-TA-T
• COSMIC: COSM6196861

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174755del , CM000669.2:g.55174755del	GRCh38
NC_000007.13:g.55242448del , CM000669.1:g.55242448del	GRCh37
NC_000007.12:g.55209942del	NCBI36
NG_007726.3:g.160724del , LRG_304:g.160724del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2059del	ENSP00000413354.2:p.Ile687PhefsTer8
ENST00000700145.1:c.567del
ENST00000275493.7:c.2218del MANE Select	ENSP00000275493.2:p.Ile740PhefsTer8
ENST00000275493.6:c.2218del	ENSP00000275493.2:p.Ile740PhefsTer8
ENST00000442591.5:c.*28+1827del	ENSP00000410031.1:n.*28+1827del
ENST00000454757.6:c.2083del	ENSP00000395243.3:p.Ile695PhefsTer8
ENST00000455089.5:c.2083del	ENSP00000415559.1:p.Ile695PhefsTer8
NM_005228.3:c.2218del , LRG_304t1:c.2218del	NP_005219.2:p.Ile740PhefsTer8
NM_001346897.1:c.2083del	NP_001333826.1:p.Ile695PhefsTer8
NM_001346898.1:c.2218del	NP_001333827.1:p.Ile740PhefsTer8
NM_001346899.1:c.2083del	NP_001333828.1:p.Ile695PhefsTer8
NM_001346900.1:c.2059del	NP_001333829.1:p.Ile687PhefsTer8
NM_001346941.1:c.1417del	NP_001333870.1:p.Ile473PhefsTer8
NM_005228.4:c.2218del	NP_005219.2:p.Ile740PhefsTer8
NM_005228.5:c.2218del MANE Select	NP_005219.2:p.Ile740PhefsTer8
NM_001346897.2:c.2083del	NP_001333826.1:p.Ile695PhefsTer8
NM_001346898.2:c.2218del	NP_001333827.1:p.Ile740PhefsTer8
NM_001346900.2:c.2059del	NP_001333829.1:p.Ile687PhefsTer8
NM_001346941.2:c.1417del	NP_001333870.1:p.Ile473PhefsTer8
NM_001346899.2:c.2083del	NP_001333828.1:p.Ile695PhefsTer8