Canonical Allele Identifier: CA1708922191

Gene: EGFR

Linked Data

• dbSNP Id: rs1787393990
• gnomAD v3: 7-55191546-ATCT-A
• gnomAD v4: 7-55191546-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191551_55191553del , CM000669.2:g.55191551_55191553del	GRCh38
NC_000007.13:g.55259244_55259246del , CM000669.1:g.55259244_55259246del	GRCh37
NC_000007.12:g.55226738_55226740del	NCBI36
NG_007726.3:g.177520_177522del , LRG_304:g.177520_177522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2311-168_2311-166del	ENSP00000413354.2:n.2311-168_2311-166del
ENST00000700145.1:c.819-168_819-166del
ENST00000275493.7:c.2470-168_2470-166del MANE Select	ENSP00000275493.2:n.2470-168_2470-166del
ENST00000275493.6:c.2470-168_2470-166del	ENSP00000275493.2:n.2470-168_2470-166del
ENST00000442591.5:c.*28+18623_*28+18625del	ENSP00000410031.1:n.*28+18623_*28+18625de...
ENST00000454757.6:c.2335-168_2335-166del	ENSP00000395243.3:n.2335-168_2335-166del
ENST00000455089.5:c.2335-168_2335-166del	ENSP00000415559.1:n.2335-168_2335-166del
NM_005228.3:c.2470-168_2470-166del , LRG_304t1:c.2470-168_2470-166del	NP_005219.2:n.2470-168_2470-166del
NM_001346897.1:c.2335-168_2335-166del	NP_001333826.1:n.2335-168_2335-166del
NM_001346898.1:c.2470-168_2470-166del	NP_001333827.1:n.2470-168_2470-166del
NM_001346899.1:c.2335-168_2335-166del	NP_001333828.1:n.2335-168_2335-166del
NM_001346900.1:c.2311-168_2311-166del	NP_001333829.1:n.2311-168_2311-166del
NM_001346941.1:c.1669-168_1669-166del	NP_001333870.1:n.1669-168_1669-166del
NM_005228.4:c.2470-168_2470-166del	NP_005219.2:n.2470-168_2470-166del
NM_005228.5:c.2470-168_2470-166del MANE Select	NP_005219.2:n.2470-168_2470-166del
NM_001346897.2:c.2335-168_2335-166del	NP_001333826.1:n.2335-168_2335-166del
NM_001346898.2:c.2470-168_2470-166del	NP_001333827.1:n.2470-168_2470-166del
NM_001346900.2:c.2311-168_2311-166del	NP_001333829.1:n.2311-168_2311-166del
NM_001346941.2:c.1669-168_1669-166del	NP_001333870.1:n.1669-168_1669-166del
NM_001346899.2:c.2335-168_2335-166del	NP_001333828.1:n.2335-168_2335-166del