Canonical Allele Identifier: CA839856096

Gene: EGFR

Linked Data

• dbSNP Id: rs1473609342
• gnomAD v3: 7-55151567-T-TATCA
• gnomAD v4: 7-55151567-T-TATCA
• MyVariant Identifiers: chr7:g.55219260_55219261insATCA (hg19) ; chr7:g.55151567_55151568insATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55151568_55151571dup , CM000669.2:g.55151568_55151571dup	GRCh38
NC_000007.13:g.55219261_55219264dup , CM000669.1:g.55219261_55219264dup	GRCh37
NC_000007.12:g.55186755_55186758dup	NCBI36
NG_007726.3:g.137537_137540dup , LRG_304:g.137537_137540dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.469+206_469+209dup	ENSP00000413354.2:n.469+206_469+209dup
ENST00000700144.1:n.818+206_818+209dup
ENST00000344576.7:c.628+206_628+209dup	ENSP00000345973.2:n.628+206_628+209dup
ENST00000275493.7:c.628+206_628+209dup MANE Select	ENSP00000275493.2:n.628+206_628+209dup
ENST00000275493.6:c.628+206_628+209dup	ENSP00000275493.2:n.628+206_628+209dup
ENST00000342916.7:c.628+206_628+209dup	ENSP00000342376.3:n.628+206_628+209dup
ENST00000344576.6:c.628+206_628+209dup	ENSP00000345973.2:n.628+206_628+209dup
ENST00000420316.6:c.628+206_628+209dup	ENSP00000413843.2:n.628+206_628+209dup
ENST00000442591.5:c.628+206_628+209dup	ENSP00000410031.1:n.628+206_628+209dup
ENST00000454757.6:c.493+206_493+209dup	ENSP00000395243.3:n.493+206_493+209dup
ENST00000455089.5:c.493+206_493+209dup	ENSP00000415559.1:n.493+206_493+209dup
NM_005228.3:c.628+206_628+209dup , LRG_304t1:c.628+206_628+209dup	NP_005219.2:n.628+206_628+209dup
NM_201282.1:c.628+206_628+209dup	NP_958439.1:n.628+206_628+209dup
NM_201283.1:c.628+206_628+209dup	NP_958440.1:n.628+206_628+209dup
NM_201284.1:c.628+206_628+209dup	NP_958441.1:n.628+206_628+209dup
NM_001346897.1:c.493+206_493+209dup	NP_001333826.1:n.493+206_493+209dup
NM_001346898.1:c.628+206_628+209dup	NP_001333827.1:n.628+206_628+209dup
NM_001346899.1:c.493+206_493+209dup	NP_001333828.1:n.493+206_493+209dup
NM_001346900.1:c.469+206_469+209dup	NP_001333829.1:n.469+206_469+209dup
NM_001346941.1:c.89-4262_89-4259dup	NP_001333870.1:n.89-4262_89-4259dup
NM_005228.4:c.628+206_628+209dup	NP_005219.2:n.628+206_628+209dup
NM_005228.5:c.628+206_628+209dup MANE Select	NP_005219.2:n.628+206_628+209dup
NM_001346897.2:c.493+206_493+209dup	NP_001333826.1:n.493+206_493+209dup
NM_001346898.2:c.628+206_628+209dup	NP_001333827.1:n.628+206_628+209dup
NM_001346900.2:c.469+206_469+209dup	NP_001333829.1:n.469+206_469+209dup
NM_001346941.2:c.89-4262_89-4259dup	NP_001333870.1:n.89-4262_89-4259dup
NM_201282.2:c.628+206_628+209dup	NP_958439.1:n.628+206_628+209dup
NM_201284.2:c.628+206_628+209dup	NP_958441.1:n.628+206_628+209dup
NM_001346899.2:c.493+206_493+209dup	NP_001333828.1:n.493+206_493+209dup
NM_201283.2:c.628+206_628+209dup	NP_958440.1:n.628+206_628+209dup