Canonical Allele Identifier: CA839813202

Gene: EGFR

Linked Data

• dbSNP Id: rs1326566139
• gnomAD v3: 7-55174607-CCA-C
• gnomAD v4: 7-55174607-CCA-C
• MyVariant Identifiers: chr7:g.55242301_55242302del (hg19) ; chr7:g.55174608_55174609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174608_55174609del , CM000669.2:g.55174608_55174609del	GRCh38
NC_000007.13:g.55242301_55242302del , CM000669.1:g.55242301_55242302del	GRCh37
NC_000007.12:g.55209795_55209796del	NCBI36
NG_007726.3:g.160577_160578del , LRG_304:g.160577_160578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2026-114_2026-113del	ENSP00000413354.2:n.2026-114_2026-113del
ENST00000700145.1:c.534-114_534-113del
ENST00000275493.7:c.2185-114_2185-113del MANE Select	ENSP00000275493.2:n.2185-114_2185-113del
ENST00000275493.6:c.2185-114_2185-113del	ENSP00000275493.2:n.2185-114_2185-113del
ENST00000442591.5:c.*28+1680_*28+1681del	ENSP00000410031.1:n.*28+1680_*28+1681del
ENST00000454757.6:c.2050-114_2050-113del	ENSP00000395243.3:n.2050-114_2050-113del
ENST00000455089.5:c.2050-114_2050-113del	ENSP00000415559.1:n.2050-114_2050-113del
NM_005228.3:c.2185-114_2185-113del , LRG_304t1:c.2185-114_2185-113del	NP_005219.2:n.2185-114_2185-113del
NM_001346897.1:c.2050-114_2050-113del	NP_001333826.1:n.2050-114_2050-113del
NM_001346898.1:c.2185-114_2185-113del	NP_001333827.1:n.2185-114_2185-113del
NM_001346899.1:c.2050-114_2050-113del	NP_001333828.1:n.2050-114_2050-113del
NM_001346900.1:c.2026-114_2026-113del	NP_001333829.1:n.2026-114_2026-113del
NM_001346941.1:c.1384-114_1384-113del	NP_001333870.1:n.1384-114_1384-113del
NM_005228.4:c.2185-114_2185-113del	NP_005219.2:n.2185-114_2185-113del
NM_005228.5:c.2185-114_2185-113del MANE Select	NP_005219.2:n.2185-114_2185-113del
NM_001346897.2:c.2050-114_2050-113del	NP_001333826.1:n.2050-114_2050-113del
NM_001346898.2:c.2185-114_2185-113del	NP_001333827.1:n.2185-114_2185-113del
NM_001346900.2:c.2026-114_2026-113del	NP_001333829.1:n.2026-114_2026-113del
NM_001346941.2:c.1384-114_1384-113del	NP_001333870.1:n.1384-114_1384-113del
NM_001346899.2:c.2050-114_2050-113del	NP_001333828.1:n.2050-114_2050-113del