Canonical Allele Identifier: CA135809

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45238
• ClinVar RCV Id: RCV000038394
• dbSNP Id: rs397517099
• MyVariant Identifiers: chr7:g.55242477_55242494del (hg19) ; chr7:g.55174784_55174801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174784_55174801del , CM000669.2:g.55174784_55174801del	GRCh38
NC_000007.13:g.55242477_55242494del , CM000669.1:g.55242477_55242494del	GRCh37
NC_000007.12:g.55209971_55209988del	NCBI36
NG_007726.3:g.160753_160770del , LRG_304:g.160753_160770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2088_2105del	ENSP00000413354.2:p.Glu696_Ala702delinsAs...
ENST00000700145.1:c.596_613del
ENST00000275493.7:c.2247_2264del MANE Select	ENSP00000275493.2:p.Glu749_Ala755delinsAs...
ENST00000275493.6:c.2247_2264del	ENSP00000275493.2:p.Glu749_Ala755delinsAs...
ENST00000442591.5:c.*28+1856_*28+1873del	ENSP00000410031.1:n.*28+1856_*28+1873del
ENST00000454757.6:c.2112_2129del	ENSP00000395243.3:p.Glu704_Ala710delinsAs...
ENST00000455089.5:c.2112_2129del	ENSP00000415559.1:p.Glu704_Ala710delinsAs...
NM_005228.3:c.2247_2264del , LRG_304t1:c.2247_2264del	NP_005219.2:p.Glu749_Ala755delinsAsp
NM_001346897.1:c.2112_2129del	NP_001333826.1:p.Glu704_Ala710delinsAsp
NM_001346898.1:c.2247_2264del	NP_001333827.1:p.Glu749_Ala755delinsAsp
NM_001346899.1:c.2112_2129del	NP_001333828.1:p.Glu704_Ala710delinsAsp
NM_001346900.1:c.2088_2105del	NP_001333829.1:p.Glu696_Ala702delinsAsp
NM_001346941.1:c.1446_1463del	NP_001333870.1:p.Glu482_Ala488delinsAsp
NM_005228.4:c.2247_2264del	NP_005219.2:p.Glu749_Ala755delinsAsp
NM_005228.5:c.2247_2264del MANE Select	NP_005219.2:p.Glu749_Ala755delinsAsp
NM_001346897.2:c.2112_2129del	NP_001333826.1:p.Glu704_Ala710delinsAsp
NM_001346898.2:c.2247_2264del	NP_001333827.1:p.Glu749_Ala755delinsAsp
NM_001346900.2:c.2088_2105del	NP_001333829.1:p.Glu696_Ala702delinsAsp
NM_001346941.2:c.1446_1463del	NP_001333870.1:p.Glu482_Ala488delinsAsp
NM_001346899.2:c.2112_2129del	NP_001333828.1:p.Glu704_Ala710delinsAsp