Canonical Allele Identifier: CA181055

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 177954
• ClinVar RCV Id: RCV000154617
• dbSNP Id: rs727503013
• MyVariant Identifiers: chr7:g.55249019_55249020insCGAACCCCC (hg19) ; chr7:g.55181326_55181327insCGAACCCCC (hg38)
• PubMed: PMID:19096302

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181326_55181327insCGAACCCCC , CM000669.2:g.55181326_55181327insCGAACCCCC	GRCh38
NC_000007.13:g.55249019_55249020insCGAACCCCC , CM000669.1:g.55249019_55249020insCGAACCCCC	GRCh37
NC_000007.12:g.55216513_55216514insCGAACCCCC	NCBI36
NG_007726.3:g.167295_167296insCGAACCCCC , LRG_304:g.167295_167296insCGAACCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2158_2159insCGAACCCCC (EGFR)	ENSP00000413354.2:p.Pro719_His720insProAsnPro
ENST00000700145.1:c.666_667insCGAACCCCC (EGFR)
ENST00000275493.7:c.2317_2318insCGAACCCCC (EGFR) MANE Select	ENSP00000275493.2:p.Pro772_His773insProAsnPro
ENST00000275493.6:c.2317_2318insCGAACCCCC (EGFR)	ENSP00000275493.2:p.Pro772_His773insProAsnPro
ENST00000442591.5:c.*28+8398_*28+8399insCGAACCCCC (EGFR)	ENSP00000410031.1:n.*28+8398_*28+8399insCGAACCCCC
ENST00000454757.6:c.2182_2183insCGAACCCCC (EGFR)	ENSP00000395243.3:p.Pro727_His728insProAsnPro
ENST00000455089.5:c.2182_2183insCGAACCCCC (EGFR)	ENSP00000415559.1:p.Pro727_His728insProAsnPro
NM_005228.3:c.2317_2318insCGAACCCCC , LRG_304t1:c.2317_2318insCGAACCCCC (EGFR)	NP_005219.2:p.Pro772_His773insProAsnPro
NR_047551.1:n.1251_1252insCGGGGGGTT (EGFR-AS1)
NM_001346897.1:c.2182_2183insCGAACCCCC (EGFR)	NP_001333826.1:p.Pro727_His728insProAsnPro
NM_001346898.1:c.2317_2318insCGAACCCCC (EGFR)	NP_001333827.1:p.Pro772_His773insProAsnPro
NM_001346899.1:c.2182_2183insCGAACCCCC (EGFR)	NP_001333828.1:p.Pro727_His728insProAsnPro
NM_001346900.1:c.2158_2159insCGAACCCCC (EGFR)	NP_001333829.1:p.Pro719_His720insProAsnPro
NM_001346941.1:c.1516_1517insCGAACCCCC (EGFR)	NP_001333870.1:p.Pro505_His506insProAsnPro
NM_005228.4:c.2317_2318insCGAACCCCC (EGFR)	NP_005219.2:p.Pro772_His773insProAsnPro
NM_005228.5:c.2317_2318insCGAACCCCC (EGFR) MANE Select	NP_005219.2:p.Pro772_His773insProAsnPro
NM_001346897.2:c.2182_2183insCGAACCCCC (EGFR)	NP_001333826.1:p.Pro727_His728insProAsnPro
NM_001346898.2:c.2317_2318insCGAACCCCC (EGFR)	NP_001333827.1:p.Pro772_His773insProAsnPro
NM_001346900.2:c.2158_2159insCGAACCCCC (EGFR)	NP_001333829.1:p.Pro719_His720insProAsnPro
NM_001346941.2:c.1516_1517insCGAACCCCC (EGFR)	NP_001333870.1:p.Pro505_His506insProAsnPro
NM_001346899.2:c.2182_2183insCGAACCCCC (EGFR)	NP_001333828.1:p.Pro727_His728insProAsnPro