Canonical Allele Identifier: CA1101516385

Gene: EGFR

Linked Data

• dbSNP Id: rs1793457490
• gnomAD v3: 7-55125293-CTAAT-C
• gnomAD v4: 7-55125293-CTAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55125296_55125299del , CM000669.2:g.55125296_55125299del	GRCh38
NC_000007.13:g.55192989_55192992del , CM000669.1:g.55192989_55192992del	GRCh37
NC_000007.12:g.55160483_55160486del	NCBI36
NG_007726.3:g.111265_111268del , LRG_304:g.111265_111268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.-72+15338_-72+15341del	ENSP00000413354.2:n.-72+15338_-72+15341de...
ENST00000700144.1:n.279-16990_279-16987del
ENST00000344576.7:c.89-16990_89-16987del	ENSP00000345973.2:n.89-16990_89-16987del
ENST00000275493.7:c.89-16990_89-16987del MANE Select	ENSP00000275493.2:n.89-16990_89-16987del
ENST00000275493.6:c.89-16990_89-16987del	ENSP00000275493.2:n.89-16990_89-16987del
ENST00000342916.7:c.89-16990_89-16987del	ENSP00000342376.3:n.89-16990_89-16987del
ENST00000344576.6:c.89-16990_89-16987del	ENSP00000345973.2:n.89-16990_89-16987del
ENST00000420316.6:c.89-16990_89-16987del	ENSP00000413843.2:n.89-16990_89-16987del
ENST00000442591.5:c.89-16990_89-16987del	ENSP00000410031.1:n.89-16990_89-16987del
ENST00000450046.1:c.-72+15338_-72+15341del	ENSP00000413354.1:n.-72+15338_-72+15341de...
ENST00000454757.6:c.89-16990_89-16987del	ENSP00000395243.3:n.89-16990_89-16987del
ENST00000455089.5:c.89-16990_89-16987del	ENSP00000415559.1:n.89-16990_89-16987del
NM_005228.3:c.89-16990_89-16987del , LRG_304t1:c.89-16990_89-16987del	NP_005219.2:n.89-16990_89-16987del
NM_201282.1:c.89-16990_89-16987del	NP_958439.1:n.89-16990_89-16987del
NM_201283.1:c.89-16990_89-16987del	NP_958440.1:n.89-16990_89-16987del
NM_201284.1:c.89-16990_89-16987del	NP_958441.1:n.89-16990_89-16987del
NM_001346897.1:c.89-16990_89-16987del	NP_001333826.1:n.89-16990_89-16987del
NM_001346898.1:c.89-16990_89-16987del	NP_001333827.1:n.89-16990_89-16987del
NM_001346899.1:c.89-16990_89-16987del	NP_001333828.1:n.89-16990_89-16987del
NM_001346900.1:c.-72+15338_-72+15341del	NP_001333829.1:n.-72+15338_-72+15341del
NM_001346941.1:c.89-30534_89-30531del	NP_001333870.1:n.89-30534_89-30531del
NM_005228.4:c.89-16990_89-16987del	NP_005219.2:n.89-16990_89-16987del
NM_005228.5:c.89-16990_89-16987del MANE Select	NP_005219.2:n.89-16990_89-16987del
NM_001346897.2:c.89-16990_89-16987del	NP_001333826.1:n.89-16990_89-16987del
NM_001346898.2:c.89-16990_89-16987del	NP_001333827.1:n.89-16990_89-16987del
NM_001346900.2:c.-72+15338_-72+15341del	NP_001333829.1:n.-72+15338_-72+15341del
NM_001346941.2:c.89-30534_89-30531del	NP_001333870.1:n.89-30534_89-30531del
NM_201282.2:c.89-16990_89-16987del	NP_958439.1:n.89-16990_89-16987del
NM_201284.2:c.89-16990_89-16987del	NP_958441.1:n.89-16990_89-16987del
NM_001346899.2:c.89-16990_89-16987del	NP_001333828.1:n.89-16990_89-16987del
NM_201283.2:c.89-16990_89-16987del	NP_958440.1:n.89-16990_89-16987del