Canonical Allele Identifier: CA2682855716

Gene: EGFR

Linked Data

• gnomAD v4: 7-55191720-GCATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191721_55191725del , CM000669.2:g.55191721_55191725del	GRCh38
NC_000007.13:g.55259414_55259418del , CM000669.1:g.55259414_55259418del	GRCh37
NC_000007.12:g.55226908_55226912del	NCBI36
NG_007726.3:g.177690_177694del , LRG_304:g.177690_177694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2313_2317del	ENSP00000413354.2:p.Met772LeufsTer?
ENST00000700145.1:c.821_825del
ENST00000275493.7:c.2472_2476del MANE Select	ENSP00000275493.2:p.Met825LeufsTer?
ENST00000275493.6:c.2472_2476del	ENSP00000275493.2:p.Met825LeufsTer?
ENST00000442591.5:c.*28+18793_*28+18797del	ENSP00000410031.1:n.*28+18793_*28+18797del
ENST00000454757.6:c.2337_2341del	ENSP00000395243.3:p.Met780LeufsTer?
ENST00000455089.5:c.2337_2341del	ENSP00000415559.1:p.Met780LeufsTer?
NM_005228.3:c.2472_2476del , LRG_304t1:c.2472_2476del	NP_005219.2:p.Met825LeufsTer?
NM_001346897.1:c.2337_2341del	NP_001333826.1:p.Met780LeufsTer?
NM_001346898.1:c.2472_2476del	NP_001333827.1:p.Met825LeufsTer?
NM_001346899.1:c.2337_2341del	NP_001333828.1:p.Met780LeufsTer?
NM_001346900.1:c.2313_2317del	NP_001333829.1:p.Met772LeufsTer?
NM_001346941.1:c.1671_1675del	NP_001333870.1:p.Met558LeufsTer?
NM_005228.4:c.2472_2476del	NP_005219.2:p.Met825LeufsTer?
NM_005228.5:c.2472_2476del MANE Select	NP_005219.2:p.Met825LeufsTer?
NM_001346897.2:c.2337_2341del	NP_001333826.1:p.Met780LeufsTer?
NM_001346898.2:c.2472_2476del	NP_001333827.1:p.Met825LeufsTer?
NM_001346900.2:c.2313_2317del	NP_001333829.1:p.Met772LeufsTer?
NM_001346941.2:c.1671_1675del	NP_001333870.1:p.Met558LeufsTer?
NM_001346899.2:c.2337_2341del	NP_001333828.1:p.Met780LeufsTer?