Canonical Allele Identifier: CA574324729

Gene: EGFR

Linked Data

• dbSNP Id: rs1332509424
• gnomAD v2: 7-55259199-GA-G
• gnomAD v3: 7-55191506-GA-G
• gnomAD v4: 7-55191506-GA-G
• MyVariant Identifiers: chr7:g.55259200del (hg19) ; chr7:g.55191507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191508del , CM000669.2:g.55191508del	GRCh38
NC_000007.13:g.55259201del , CM000669.1:g.55259201del	GRCh37
NC_000007.12:g.55226695del	NCBI36
NG_007726.3:g.177477del , LRG_304:g.177477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2311-211del	ENSP00000413354.2:n.2311-211del
ENST00000700145.1:c.819-211del
ENST00000275493.7:c.2470-211del MANE Select	ENSP00000275493.2:n.2470-211del
ENST00000275493.6:c.2470-211del	ENSP00000275493.2:n.2470-211del
ENST00000442591.5:c.*28+18580del	ENSP00000410031.1:n.*28+18580del
ENST00000454757.6:c.2335-211del	ENSP00000395243.3:n.2335-211del
ENST00000455089.5:c.2335-211del	ENSP00000415559.1:n.2335-211del
NM_005228.3:c.2470-211del , LRG_304t1:c.2470-211del	NP_005219.2:n.2470-211del
NM_001346897.1:c.2335-211del	NP_001333826.1:n.2335-211del
NM_001346898.1:c.2470-211del	NP_001333827.1:n.2470-211del
NM_001346899.1:c.2335-211del	NP_001333828.1:n.2335-211del
NM_001346900.1:c.2311-211del	NP_001333829.1:n.2311-211del
NM_001346941.1:c.1669-211del	NP_001333870.1:n.1669-211del
NM_005228.4:c.2470-211del	NP_005219.2:n.2470-211del
NM_005228.5:c.2470-211del MANE Select	NP_005219.2:n.2470-211del
NM_001346897.2:c.2335-211del	NP_001333826.1:n.2335-211del
NM_001346898.2:c.2470-211del	NP_001333827.1:n.2470-211del
NM_001346900.2:c.2311-211del	NP_001333829.1:n.2311-211del
NM_001346941.2:c.1669-211del	NP_001333870.1:n.1669-211del
NM_001346899.2:c.2335-211del	NP_001333828.1:n.2335-211del