Canonical Allele Identifier: CA2739266427
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2844319
ClinVar RCV Id: RCV003652470

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201256_55201258dup , CM000669.2:g.55201256_55201258dup GRCh38
NC_000007.13:g.55268949_55268951dup , CM000669.1:g.55268949_55268951dup GRCh37
NC_000007.12:g.55236443_55236445dup NCBI36
NG_007726.3:g.187225_187227dup , LRG_304:g.187225_187227dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2856_2858dup ENSP00000413354.2:p.Glu952_Asp953insGlu
ENST00000700145.1:c.900-4091_900-4089dup
ENST00000700146.1:n.759_761dup
ENST00000700147.1:n.684_686dup
ENST00000275493.7:c.3015_3017dup MANE Select ENSP00000275493.2:p.Glu1005_Asp1006insGlu
ENST00000275493.6:c.3015_3017dup ENSP00000275493.2:p.Glu1005_Asp1006insGlu
ENST00000442591.5:c.*28+28328_*28+28330dup ENSP00000410031.1:n.*28+28328_*28+28330dup
ENST00000454757.6:c.2880_2882dup ENSP00000395243.3:p.Glu960_Asp961insGlu
ENST00000455089.5:c.2880_2882dup ENSP00000415559.1:p.Glu960_Asp961insGlu
NM_005228.3:c.3015_3017dup , LRG_304t1:c.3015_3017dup NP_005219.2:p.Glu1005_Asp1006insGlu
NM_001346897.1:c.2880_2882dup NP_001333826.1:p.Glu960_Asp961insGlu
NM_001346898.1:c.3015_3017dup NP_001333827.1:p.Glu1005_Asp1006insGlu
NM_001346899.1:c.2880_2882dup NP_001333828.1:p.Glu960_Asp961insGlu
NM_001346900.1:c.2856_2858dup NP_001333829.1:p.Glu952_Asp953insGlu
NM_001346941.1:c.2214_2216dup NP_001333870.1:p.Glu738_Asp739insGlu
NM_005228.4:c.3015_3017dup NP_005219.2:p.Glu1005_Asp1006insGlu
NM_005228.5:c.3015_3017dup MANE Select NP_005219.2:p.Glu1005_Asp1006insGlu
NM_001346897.2:c.2880_2882dup NP_001333826.1:p.Glu960_Asp961insGlu
NM_001346898.2:c.3015_3017dup NP_001333827.1:p.Glu1005_Asp1006insGlu
NM_001346900.2:c.2856_2858dup NP_001333829.1:p.Glu952_Asp953insGlu
NM_001346941.2:c.2214_2216dup NP_001333870.1:p.Glu738_Asp739insGlu
NM_001346899.2:c.2880_2882dup NP_001333828.1:p.Glu960_Asp961insGlu