Canonical Allele Identifier: CA176011

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 163375
• ClinVar RCV Id: RCV000150624
• dbSNP Id: rs1554350351
• MyVariant Identifiers: chr7:g.55249013_55249014insGTT (hg19) ; chr7:g.55181320_55181321insGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181320_55181321insGTT , CM000669.2:g.55181320_55181321insGTT	GRCh38
NC_000007.13:g.55249013_55249014insGTT , CM000669.1:g.55249013_55249014insGTT	GRCh37
NC_000007.12:g.55216507_55216508insGTT	NCBI36
NG_007726.3:g.167289_167290insGTT , LRG_304:g.167289_167290insGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2152_2153insGTT (EGFR)	ENSP00000413354.2:p.Asn718delinsSerTyr
ENST00000700145.1:c.660_661insGTT (EGFR)
ENST00000275493.7:c.2311_2312insGTT (EGFR) MANE Select	ENSP00000275493.2:p.Asn771delinsSerTyr
ENST00000275493.6:c.2311_2312insGTT (EGFR)	ENSP00000275493.2:p.Asn771delinsSerTyr
ENST00000442591.5:c.*28+8392_*28+8393insGTT (EGFR)	ENSP00000410031.1:n.*28+8392_*28+8393insGTT
ENST00000454757.6:c.2176_2177insGTT (EGFR)	ENSP00000395243.3:p.Asn726delinsSerTyr
ENST00000455089.5:c.2176_2177insGTT (EGFR)	ENSP00000415559.1:p.Asn726delinsSerTyr
NM_005228.3:c.2311_2312insGTT , LRG_304t1:c.2311_2312insGTT (EGFR)	NP_005219.2:p.Asn771delinsSerTyr
NR_047551.1:n.1250_1251insAAC (EGFR-AS1)
NM_001346897.1:c.2176_2177insGTT (EGFR)	NP_001333826.1:p.Asn726delinsSerTyr
NM_001346898.1:c.2311_2312insGTT (EGFR)	NP_001333827.1:p.Asn771delinsSerTyr
NM_001346899.1:c.2176_2177insGTT (EGFR)	NP_001333828.1:p.Asn726delinsSerTyr
NM_001346900.1:c.2152_2153insGTT (EGFR)	NP_001333829.1:p.Asn718delinsSerTyr
NM_001346941.1:c.1510_1511insGTT (EGFR)	NP_001333870.1:p.Asn504delinsSerTyr
NM_005228.4:c.2311_2312insGTT (EGFR)	NP_005219.2:p.Asn771delinsSerTyr
NM_005228.5:c.2311_2312insGTT (EGFR) MANE Select	NP_005219.2:p.Asn771delinsSerTyr
NM_001346897.2:c.2176_2177insGTT (EGFR)	NP_001333826.1:p.Asn726delinsSerTyr
NM_001346898.2:c.2311_2312insGTT (EGFR)	NP_001333827.1:p.Asn771delinsSerTyr
NM_001346900.2:c.2152_2153insGTT (EGFR)	NP_001333829.1:p.Asn718delinsSerTyr
NM_001346941.2:c.1510_1511insGTT (EGFR)	NP_001333870.1:p.Asn504delinsSerTyr
NM_001346899.2:c.2176_2177insGTT (EGFR)	NP_001333828.1:p.Asn726delinsSerTyr