Canonical Allele Identifier: CA839805001

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1375618059
• gnomAD v3: 7-55184036-ACT-A
• gnomAD v4: 7-55184036-ACT-A
• MyVariant Identifiers: chr7:g.55251730_55251731del (hg19) ; chr7:g.55184037_55184038del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55184038_55184039del , CM000669.2:g.55184038_55184039del	GRCh38
NC_000007.13:g.55251731_55251732del , CM000669.1:g.55251731_55251732del	GRCh37
NC_000007.12:g.55219225_55219226del	NCBI36
NG_007726.3:g.170007_170008del , LRG_304:g.170007_170008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2310+2560_2310+2561del (EGFR)	ENSP00000413354.2:n.2310+2560_2310+2561del
ENST00000700145.1:c.818+2560_818+2561del (EGFR)
ENST00000275493.7:c.2469+2560_2469+2561del (EGFR) MANE Select	ENSP00000275493.2:n.2469+2560_2469+2561del
ENST00000275493.6:c.2469+2560_2469+2561del (EGFR)	ENSP00000275493.2:n.2469+2560_2469+2561del
ENST00000442591.5:c.*28+11110_*28+11111del (EGFR)	ENSP00000410031.1:n.*28+11110_*28+11111del
ENST00000454757.6:c.2334+2560_2334+2561del (EGFR)	ENSP00000395243.3:n.2334+2560_2334+2561del
ENST00000455089.5:c.2334+2560_2334+2561del (EGFR)	ENSP00000415559.1:n.2334+2560_2334+2561del
NM_005228.3:c.2469+2560_2469+2561del , LRG_304t1:c.2469+2560_2469+2561del (EGFR)	NP_005219.2:n.2469+2560_2469+2561del
NR_047551.1:n.94-1561_94-1560del (EGFR-AS1)
NM_001346897.1:c.2334+2560_2334+2561del (EGFR)	NP_001333826.1:n.2334+2560_2334+2561del
NM_001346898.1:c.2469+2560_2469+2561del (EGFR)	NP_001333827.1:n.2469+2560_2469+2561del
NM_001346899.1:c.2334+2560_2334+2561del (EGFR)	NP_001333828.1:n.2334+2560_2334+2561del
NM_001346900.1:c.2310+2560_2310+2561del (EGFR)	NP_001333829.1:n.2310+2560_2310+2561del
NM_001346941.1:c.1668+2560_1668+2561del (EGFR)	NP_001333870.1:n.1668+2560_1668+2561del
NM_005228.4:c.2469+2560_2469+2561del (EGFR)	NP_005219.2:n.2469+2560_2469+2561del
NM_005228.5:c.2469+2560_2469+2561del (EGFR) MANE Select	NP_005219.2:n.2469+2560_2469+2561del
NM_001346897.2:c.2334+2560_2334+2561del (EGFR)	NP_001333826.1:n.2334+2560_2334+2561del
NM_001346898.2:c.2469+2560_2469+2561del (EGFR)	NP_001333827.1:n.2469+2560_2469+2561del
NM_001346900.2:c.2310+2560_2310+2561del (EGFR)	NP_001333829.1:n.2310+2560_2310+2561del
NM_001346941.2:c.1668+2560_1668+2561del (EGFR)	NP_001333870.1:n.1668+2560_1668+2561del
NM_001346899.2:c.2334+2560_2334+2561del (EGFR)	NP_001333828.1:n.2334+2560_2334+2561del