Canonical Allele Identifier: CA2682855113

Gene: EGFR

Linked Data

• gnomAD v4: 7-55191978-C-CCAGAATGTCTGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191978_55191979insCAGAATGTCTGGAG , CM000669.2:g.55191978_55191979insCAGAATGTCTGGAG	GRCh38
NC_000007.13:g.55259671_55259672insCAGAATGTCTGGAG , CM000669.1:g.55259671_55259672insCAGAATGTCTGGAG	GRCh37
NC_000007.12:g.55227165_55227166insCAGAATGTCTGGAG	NCBI36
NG_007726.3:g.177947_177948insCAGAATGTCTGGAG , LRG_304:g.177947_177948insCAGAATGTCTGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2466+104_2466+105insCAGAATGTCTGGAG	ENSP00000413354.2:n.2466+104_2466+105insCAGAATGTCTGGAG
ENST00000700145.1:c.899+179_899+180insCAGAATGTCTGGAG
ENST00000275493.7:c.2625+104_2625+105insCAGAATGTCTGGAG MANE Select	ENSP00000275493.2:n.2625+104_2625+105insCAGAATGTCTGGAG
ENST00000275493.6:c.2625+104_2625+105insCAGAATGTCTGGAG	ENSP00000275493.2:n.2625+104_2625+105insCAGAATGTCTGGAG
ENST00000442591.5:c.*28+19050_*28+19051insCAGAATGTCTGGAG	ENSP00000410031.1:n.*28+19050_*28+19051insCAGAATGTCTGGAG
ENST00000454757.6:c.2490+104_2490+105insCAGAATGTCTGGAG	ENSP00000395243.3:n.2490+104_2490+105insCAGAATGTCTGGAG
ENST00000455089.5:c.2490+104_2490+105insCAGAATGTCTGGAG	ENSP00000415559.1:n.2490+104_2490+105insCAGAATGTCTGGAG
NM_005228.3:c.2625+104_2625+105insCAGAATGTCTGGAG , LRG_304t1:c.2625+104_2625+105insCAGAATGTCTGGAG	NP_005219.2:n.2625+104_2625+105insCAGAATGTCTGGAG
NM_001346897.1:c.2490+104_2490+105insCAGAATGTCTGGAG	NP_001333826.1:n.2490+104_2490+105insCAGAATGTCTGGAG
NM_001346898.1:c.2625+104_2625+105insCAGAATGTCTGGAG	NP_001333827.1:n.2625+104_2625+105insCAGAATGTCTGGAG
NM_001346899.1:c.2490+104_2490+105insCAGAATGTCTGGAG	NP_001333828.1:n.2490+104_2490+105insCAGAATGTCTGGAG
NM_001346900.1:c.2466+104_2466+105insCAGAATGTCTGGAG	NP_001333829.1:n.2466+104_2466+105insCAGAATGTCTGGAG
NM_001346941.1:c.1824+104_1824+105insCAGAATGTCTGGAG	NP_001333870.1:n.1824+104_1824+105insCAGAATGTCTGGAG
NM_005228.4:c.2625+104_2625+105insCAGAATGTCTGGAG	NP_005219.2:n.2625+104_2625+105insCAGAATGTCTGGAG
NM_005228.5:c.2625+104_2625+105insCAGAATGTCTGGAG MANE Select	NP_005219.2:n.2625+104_2625+105insCAGAATGTCTGGAG
NM_001346897.2:c.2490+104_2490+105insCAGAATGTCTGGAG	NP_001333826.1:n.2490+104_2490+105insCAGAATGTCTGGAG
NM_001346898.2:c.2625+104_2625+105insCAGAATGTCTGGAG	NP_001333827.1:n.2625+104_2625+105insCAGAATGTCTGGAG
NM_001346900.2:c.2466+104_2466+105insCAGAATGTCTGGAG	NP_001333829.1:n.2466+104_2466+105insCAGAATGTCTGGAG
NM_001346941.2:c.1824+104_1824+105insCAGAATGTCTGGAG	NP_001333870.1:n.1824+104_1824+105insCAGAATGTCTGGAG
NM_001346899.2:c.2490+104_2490+105insCAGAATGTCTGGAG	NP_001333828.1:n.2490+104_2490+105insCAGAATGTCTGGAG