Canonical Allele Identifier: CA1101518244

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1927944
• ClinVar RCV Id: RCV002614285
• dbSNP Id: rs1786528918
• gnomAD v3: 7-55174832-CT-C
• gnomAD v4: 7-55174832-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174835del , CM000669.2:g.55174835del	GRCh38
NC_000007.13:g.55242528del , CM000669.1:g.55242528del	GRCh37
NC_000007.12:g.55210022del	NCBI36
NG_007726.3:g.160804del , LRG_304:g.160804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2124+15del	ENSP00000413354.2:n.2124+15del
ENST00000700145.1:c.632+15del
ENST00000275493.7:c.2283+15del MANE Select	ENSP00000275493.2:n.2283+15del
ENST00000275493.6:c.2283+15del	ENSP00000275493.2:n.2283+15del
ENST00000442591.5:c.*28+1907del	ENSP00000410031.1:n.*28+1907del
ENST00000454757.6:c.2148+15del	ENSP00000395243.3:n.2148+15del
ENST00000455089.5:c.2148+15del	ENSP00000415559.1:n.2148+15del
NM_005228.3:c.2283+15del , LRG_304t1:c.2283+15del	NP_005219.2:n.2283+15del
NM_001346897.1:c.2148+15del	NP_001333826.1:n.2148+15del
NM_001346898.1:c.2283+15del	NP_001333827.1:n.2283+15del
NM_001346899.1:c.2148+15del	NP_001333828.1:n.2148+15del
NM_001346900.1:c.2124+15del	NP_001333829.1:n.2124+15del
NM_001346941.1:c.1482+15del	NP_001333870.1:n.1482+15del
NM_005228.4:c.2283+15del	NP_005219.2:n.2283+15del
NM_005228.5:c.2283+15del MANE Select	NP_005219.2:n.2283+15del
NM_001346897.2:c.2148+15del	NP_001333826.1:n.2148+15del
NM_001346898.2:c.2283+15del	NP_001333827.1:n.2283+15del
NM_001346900.2:c.2124+15del	NP_001333829.1:n.2124+15del
NM_001346941.2:c.1482+15del	NP_001333870.1:n.1482+15del
NM_001346899.2:c.2148+15del	NP_001333828.1:n.2148+15del