Canonical Allele Identifier: CA2573142251

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1426453
• ClinVar RCV Id: RCV001929414
• dbSNP Id: rs2128964704

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191864_55191866del , CM000669.2:g.55191864_55191866del	GRCh38
NC_000007.13:g.55259557_55259559del , CM000669.1:g.55259557_55259559del	GRCh37
NC_000007.12:g.55227051_55227053del	NCBI36
NG_007726.3:g.177833_177835del , LRG_304:g.177833_177835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2456_2458del	ENSP00000413354.2:p.Glu819del
ENST00000700145.1:c.899+65_899+67del
ENST00000275493.7:c.2615_2617del MANE Select	ENSP00000275493.2:p.Glu872del
ENST00000275493.6:c.2615_2617del	ENSP00000275493.2:p.Glu872del
ENST00000442591.5:c.*28+18936_*28+18938del	ENSP00000410031.1:n.*28+18936_*28+18938del
ENST00000454757.6:c.2480_2482del	ENSP00000395243.3:p.Glu827del
ENST00000455089.5:c.2480_2482del	ENSP00000415559.1:p.Glu827del
NM_005228.3:c.2615_2617del , LRG_304t1:c.2615_2617del	NP_005219.2:p.Glu872del
NM_001346897.1:c.2480_2482del	NP_001333826.1:p.Glu827del
NM_001346898.1:c.2615_2617del	NP_001333827.1:p.Glu872del
NM_001346899.1:c.2480_2482del	NP_001333828.1:p.Glu827del
NM_001346900.1:c.2456_2458del	NP_001333829.1:p.Glu819del
NM_001346941.1:c.1814_1816del	NP_001333870.1:p.Glu605del
NM_005228.4:c.2615_2617del	NP_005219.2:p.Glu872del
NM_005228.5:c.2615_2617del MANE Select	NP_005219.2:p.Glu872del
NM_001346897.2:c.2480_2482del	NP_001333826.1:p.Glu827del
NM_001346898.2:c.2615_2617del	NP_001333827.1:p.Glu872del
NM_001346900.2:c.2456_2458del	NP_001333829.1:p.Glu819del
NM_001346941.2:c.1814_1816del	NP_001333870.1:p.Glu605del
NM_001346899.2:c.2480_2482del	NP_001333828.1:p.Glu827del