Canonical Allele Identifier: CA2573142232

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1422579
• ClinVar RCV Id: RCV001919602
• dbSNP Id: rs2128964422

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191746_55191747delinsCC , CM000669.2:g.55191746_55191747delinsCC	GRCh38
NC_000007.13:g.55259439_55259440delinsCC , CM000669.1:g.55259439_55259440delinsCC	GRCh37
NC_000007.12:g.55226933_55226934delinsCC	NCBI36
NG_007726.3:g.177715_177716delinsCC , LRG_304:g.177715_177716delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2338_2339delinsCC	ENSP00000413354.2:p.Leu780Pro
ENST00000700145.1:c.846_847delinsCC
ENST00000275493.7:c.2497_2498delinsCC MANE Select	ENSP00000275493.2:p.Leu833Pro
ENST00000275493.6:c.2497_2498delinsCC	ENSP00000275493.2:p.Leu833Pro
ENST00000442591.5:c.*28+18818_*28+18819delinsCC	ENSP00000410031.1:n.*28+18818_*28+18819de...
ENST00000454757.6:c.2362_2363delinsCC	ENSP00000395243.3:p.Leu788Pro
ENST00000455089.5:c.2362_2363delinsCC	ENSP00000415559.1:p.Leu788Pro
NM_005228.3:c.2497_2498delinsCC , LRG_304t1:c.2497_2498delinsCC	NP_005219.2:p.Leu833Pro
NM_001346897.1:c.2362_2363delinsCC	NP_001333826.1:p.Leu788Pro
NM_001346898.1:c.2497_2498delinsCC	NP_001333827.1:p.Leu833Pro
NM_001346899.1:c.2362_2363delinsCC	NP_001333828.1:p.Leu788Pro
NM_001346900.1:c.2338_2339delinsCC	NP_001333829.1:p.Leu780Pro
NM_001346941.1:c.1696_1697delinsCC	NP_001333870.1:p.Leu566Pro
NM_005228.4:c.2497_2498delinsCC	NP_005219.2:p.Leu833Pro
NM_005228.5:c.2497_2498delinsCC MANE Select	NP_005219.2:p.Leu833Pro
NM_001346897.2:c.2362_2363delinsCC	NP_001333826.1:p.Leu788Pro
NM_001346898.2:c.2497_2498delinsCC	NP_001333827.1:p.Leu833Pro
NM_001346900.2:c.2338_2339delinsCC	NP_001333829.1:p.Leu780Pro
NM_001346941.2:c.1696_1697delinsCC	NP_001333870.1:p.Leu566Pro
NM_001346899.2:c.2362_2363delinsCC	NP_001333828.1:p.Leu788Pro