Canonical Allele Identifier: CA839804709

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1362066869
• gnomAD v3: 7-55183609-A-AACCCAG
• gnomAD v4: 7-55183609-A-AACCCAG
• MyVariant Identifiers: chr7:g.55251302_55251303insACCCAG (hg19) ; chr7:g.55183609_55183610insACCCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55183613_55183618dup , CM000669.2:g.55183613_55183618dup	GRCh38
NC_000007.13:g.55251306_55251311dup , CM000669.1:g.55251306_55251311dup	GRCh37
NC_000007.12:g.55218800_55218805dup	NCBI36
NG_007726.3:g.169582_169587dup , LRG_304:g.169582_169587dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2310+2135_2310+2140dup (EGFR)	ENSP00000413354.2:n.2310+2135_2310+2140dup
ENST00000700145.1:c.818+2135_818+2140dup (EGFR)
ENST00000275493.7:c.2469+2135_2469+2140dup (EGFR) MANE Select	ENSP00000275493.2:n.2469+2135_2469+2140dup
ENST00000275493.6:c.2469+2135_2469+2140dup (EGFR)	ENSP00000275493.2:n.2469+2135_2469+2140dup
ENST00000442591.5:c.*28+10685_*28+10690dup (EGFR)	ENSP00000410031.1:n.*28+10685_*28+10690dup
ENST00000454757.6:c.2334+2135_2334+2140dup (EGFR)	ENSP00000395243.3:n.2334+2135_2334+2140dup
ENST00000455089.5:c.2334+2135_2334+2140dup (EGFR)	ENSP00000415559.1:n.2334+2135_2334+2140dup
NM_005228.3:c.2469+2135_2469+2140dup , LRG_304t1:c.2469+2135_2469+2140dup (EGFR)	NP_005219.2:n.2469+2135_2469+2140dup
NR_047551.1:n.94-1138_94-1133dup (EGFR-AS1)
NM_001346897.1:c.2334+2135_2334+2140dup (EGFR)	NP_001333826.1:n.2334+2135_2334+2140dup
NM_001346898.1:c.2469+2135_2469+2140dup (EGFR)	NP_001333827.1:n.2469+2135_2469+2140dup
NM_001346899.1:c.2334+2135_2334+2140dup (EGFR)	NP_001333828.1:n.2334+2135_2334+2140dup
NM_001346900.1:c.2310+2135_2310+2140dup (EGFR)	NP_001333829.1:n.2310+2135_2310+2140dup
NM_001346941.1:c.1668+2135_1668+2140dup (EGFR)	NP_001333870.1:n.1668+2135_1668+2140dup
NM_005228.4:c.2469+2135_2469+2140dup (EGFR)	NP_005219.2:n.2469+2135_2469+2140dup
NM_005228.5:c.2469+2135_2469+2140dup (EGFR) MANE Select	NP_005219.2:n.2469+2135_2469+2140dup
NM_001346897.2:c.2334+2135_2334+2140dup (EGFR)	NP_001333826.1:n.2334+2135_2334+2140dup
NM_001346898.2:c.2469+2135_2469+2140dup (EGFR)	NP_001333827.1:n.2469+2135_2469+2140dup
NM_001346900.2:c.2310+2135_2310+2140dup (EGFR)	NP_001333829.1:n.2310+2135_2310+2140dup
NM_001346941.2:c.1668+2135_1668+2140dup (EGFR)	NP_001333870.1:n.1668+2135_1668+2140dup
NM_001346899.2:c.2334+2135_2334+2140dup (EGFR)	NP_001333828.1:n.2334+2135_2334+2140dup