Canonical Allele Identifier: CA574695884
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1312338641
gnomAD v2: 7-55248821-T-TA
gnomAD v3: 7-55181128-T-TA
gnomAD v4: 7-55181128-T-TA
MyVariant Identifiers: chr7:g.55248821_55248822insA (hg19) chr7:g.55181128_55181129insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181131dup , CM000669.2:g.55181131dup GRCh38
NC_000007.13:g.55248824dup , CM000669.1:g.55248824dup GRCh37
NC_000007.12:g.55216318dup NCBI36
NG_007726.3:g.167100dup , LRG_304:g.167100dup

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2125-162dup (EGFR) ENSP00000413354.2:n.2125-162dup
ENST00000700145.1:c.633-162dup (EGFR)
ENST00000275493.7:c.2284-162dup (EGFR) MANE Select ENSP00000275493.2:n.2284-162dup
ENST00000275493.6:c.2284-162dup (EGFR) ENSP00000275493.2:n.2284-162dup
ENST00000442591.5:c.*28+8203dup (EGFR) ENSP00000410031.1:n.*28+8203dup
ENST00000454757.6:c.2149-162dup (EGFR) ENSP00000395243.3:n.2149-162dup
ENST00000455089.5:c.2149-162dup (EGFR) ENSP00000415559.1:n.2149-162dup
NM_005228.3:c.2284-162dup , LRG_304t1:c.2284-162dup (EGFR) NP_005219.2:n.2284-162dup
NR_047551.1:n.1442dup (EGFR-AS1)
NM_001346897.1:c.2149-162dup (EGFR) NP_001333826.1:n.2149-162dup
NM_001346898.1:c.2284-162dup (EGFR) NP_001333827.1:n.2284-162dup
NM_001346899.1:c.2149-162dup (EGFR) NP_001333828.1:n.2149-162dup
NM_001346900.1:c.2125-162dup (EGFR) NP_001333829.1:n.2125-162dup
NM_001346941.1:c.1483-162dup (EGFR) NP_001333870.1:n.1483-162dup
NM_005228.4:c.2284-162dup (EGFR) NP_005219.2:n.2284-162dup
NM_005228.5:c.2284-162dup (EGFR) MANE Select NP_005219.2:n.2284-162dup
NM_001346897.2:c.2149-162dup (EGFR) NP_001333826.1:n.2149-162dup
NM_001346898.2:c.2284-162dup (EGFR) NP_001333827.1:n.2284-162dup
NM_001346900.2:c.2125-162dup (EGFR) NP_001333829.1:n.2125-162dup
NM_001346941.2:c.1483-162dup (EGFR) NP_001333870.1:n.1483-162dup
NM_001346899.2:c.2149-162dup (EGFR) NP_001333828.1:n.2149-162dup
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