Canonical Allele Identifier: CA645561483
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954688
COSMIC: COSM133186

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174767_55174783delinsCTTAAGAG , CM000669.2:g.55174767_55174783delinsCTTAAGAG GRCh38
NC_000007.13:g.55242460_55242476delinsCTTAAGAG , CM000669.1:g.55242460_55242476delinsCTTAAGAG GRCh37
NC_000007.12:g.55209954_55209970delinsCTTAAGAG NCBI36
NG_007726.3:g.160736_160752delinsCTTAAGAG , LRG_304:g.160736_160752delinsCTTAAGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2071_2087delinsCTTAAGAG ENSP00000413354.2:p.Ile691_Glu696delinsLe...
ENST00000700145.1:c.579_595delinsCTTAAGAG
ENST00000275493.7:c.2230_2246delinsCTTAAGAG MANE Select ENSP00000275493.2:p.Ile744_Glu749delinsLe...
ENST00000275493.6:c.2230_2246delinsCTTAAGAG ENSP00000275493.2:p.Ile744_Glu749delinsLe...
ENST00000442591.5:c.*28+1839_*28+1855delinsCTTAAGAG ENSP00000410031.1:n.*28+1839_*28+1855deli...
ENST00000454757.6:c.2095_2111delinsCTTAAGAG ENSP00000395243.3:p.Ile699_Glu704delinsLe...
ENST00000455089.5:c.2095_2111delinsCTTAAGAG ENSP00000415559.1:p.Ile699_Glu704delinsLe...
NM_005228.3:c.2230_2246delinsCTTAAGAG , LRG_304t1:c.2230_2246delinsCTTAAGAG NP_005219.2:p.Ile744_Glu749delinsLeuLysAr...
NM_001346897.1:c.2095_2111delinsCTTAAGAG NP_001333826.1:p.Ile699_Glu704delinsLeuLy...
NM_001346898.1:c.2230_2246delinsCTTAAGAG NP_001333827.1:p.Ile744_Glu749delinsLeuLy...
NM_001346899.1:c.2095_2111delinsCTTAAGAG NP_001333828.1:p.Ile699_Glu704delinsLeuLy...
NM_001346900.1:c.2071_2087delinsCTTAAGAG NP_001333829.1:p.Ile691_Glu696delinsLeuLy...
NM_001346941.1:c.1429_1445delinsCTTAAGAG NP_001333870.1:p.Ile477_Glu482delinsLeuLy...
NM_005228.4:c.2230_2246delinsCTTAAGAG NP_005219.2:p.Ile744_Glu749delinsLeuLysAr...
NM_005228.5:c.2230_2246delinsCTTAAGAG MANE Select NP_005219.2:p.Ile744_Glu749delinsLeuLysAr...
NM_001346897.2:c.2095_2111delinsCTTAAGAG NP_001333826.1:p.Ile699_Glu704delinsLeuLy...
NM_001346898.2:c.2230_2246delinsCTTAAGAG NP_001333827.1:p.Ile744_Glu749delinsLeuLy...
NM_001346900.2:c.2071_2087delinsCTTAAGAG NP_001333829.1:p.Ile691_Glu696delinsLeuLy...
NM_001346941.2:c.1429_1445delinsCTTAAGAG NP_001333870.1:p.Ile477_Glu482delinsLeuLy...
NM_001346899.2:c.2095_2111delinsCTTAAGAG NP_001333828.1:p.Ile699_Glu704delinsLeuLy...