Canonical Allele Identifier: CA2682854706

Gene: EGFR

Linked Data

• gnomAD v4: 7-55174073-G-GCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174073_55174074insCACA , CM000669.2:g.55174073_55174074insCACA	GRCh38
NC_000007.13:g.55241766_55241767insCACA , CM000669.1:g.55241766_55241767insCACA	GRCh37
NC_000007.12:g.55209260_55209261insCACA	NCBI36
NG_007726.3:g.160042_160043insCACA , LRG_304:g.160042_160043insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2025+30_2025+31insCACA	ENSP00000413354.2:n.2025+30_2025+31insCACA
ENST00000700145.1:c.533+30_533+31insCACA
ENST00000275493.7:c.2184+30_2184+31insCACA MANE Select	ENSP00000275493.2:n.2184+30_2184+31insCACA
ENST00000275493.6:c.2184+30_2184+31insCACA	ENSP00000275493.2:n.2184+30_2184+31insCACA
ENST00000442591.5:c.*28+1145_*28+1146insCACA	ENSP00000410031.1:n.*28+1145_*28+1146insCACA
ENST00000454757.6:c.2049+30_2049+31insCACA	ENSP00000395243.3:n.2049+30_2049+31insCACA
ENST00000455089.5:c.2049+30_2049+31insCACA	ENSP00000415559.1:n.2049+30_2049+31insCACA
NM_005228.3:c.2184+30_2184+31insCACA , LRG_304t1:c.2184+30_2184+31insCACA	NP_005219.2:n.2184+30_2184+31insCACA
NM_001346897.1:c.2049+30_2049+31insCACA	NP_001333826.1:n.2049+30_2049+31insCACA
NM_001346898.1:c.2184+30_2184+31insCACA	NP_001333827.1:n.2184+30_2184+31insCACA
NM_001346899.1:c.2049+30_2049+31insCACA	NP_001333828.1:n.2049+30_2049+31insCACA
NM_001346900.1:c.2025+30_2025+31insCACA	NP_001333829.1:n.2025+30_2025+31insCACA
NM_001346941.1:c.1383+30_1383+31insCACA	NP_001333870.1:n.1383+30_1383+31insCACA
NM_005228.4:c.2184+30_2184+31insCACA	NP_005219.2:n.2184+30_2184+31insCACA
NM_005228.5:c.2184+30_2184+31insCACA MANE Select	NP_005219.2:n.2184+30_2184+31insCACA
NM_001346897.2:c.2049+30_2049+31insCACA	NP_001333826.1:n.2049+30_2049+31insCACA
NM_001346898.2:c.2184+30_2184+31insCACA	NP_001333827.1:n.2184+30_2184+31insCACA
NM_001346900.2:c.2025+30_2025+31insCACA	NP_001333829.1:n.2025+30_2025+31insCACA
NM_001346941.2:c.1383+30_1383+31insCACA	NP_001333870.1:n.1383+30_1383+31insCACA
NM_001346899.2:c.2049+30_2049+31insCACA	NP_001333828.1:n.2049+30_2049+31insCACA