Canonical Allele Identifier: CA158934400

Gene: EGFR

Linked Data

• dbSNP Id: rs972983954
• gnomAD v3: 7-55192003-A-AGCT
• gnomAD v4: 7-55192003-A-AGCT
• MyVariant Identifiers: chr7:g.55259696_55259697insGCT (hg19) ; chr7:g.55192003_55192004insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55192011_55192013dup , CM000669.2:g.55192011_55192013dup	GRCh38
NC_000007.13:g.55259704_55259706dup , CM000669.1:g.55259704_55259706dup	GRCh37
NC_000007.12:g.55227198_55227200dup	NCBI36
NG_007726.3:g.177980_177982dup , LRG_304:g.177980_177982dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2466+137_2466+139dup	ENSP00000413354.2:n.2466+137_2466+139dup
ENST00000700145.1:c.899+212_899+214dup
ENST00000275493.7:c.2625+137_2625+139dup MANE Select	ENSP00000275493.2:n.2625+137_2625+139dup
ENST00000275493.6:c.2625+137_2625+139dup	ENSP00000275493.2:n.2625+137_2625+139dup
ENST00000442591.5:c.*28+19083_*28+19085dup	ENSP00000410031.1:n.*28+19083_*28+19085dup
ENST00000454757.6:c.2490+137_2490+139dup	ENSP00000395243.3:n.2490+137_2490+139dup
ENST00000455089.5:c.2490+137_2490+139dup	ENSP00000415559.1:n.2490+137_2490+139dup
NM_005228.3:c.2625+137_2625+139dup , LRG_304t1:c.2625+137_2625+139dup	NP_005219.2:n.2625+137_2625+139dup
NM_001346897.1:c.2490+137_2490+139dup	NP_001333826.1:n.2490+137_2490+139dup
NM_001346898.1:c.2625+137_2625+139dup	NP_001333827.1:n.2625+137_2625+139dup
NM_001346899.1:c.2490+137_2490+139dup	NP_001333828.1:n.2490+137_2490+139dup
NM_001346900.1:c.2466+137_2466+139dup	NP_001333829.1:n.2466+137_2466+139dup
NM_001346941.1:c.1824+137_1824+139dup	NP_001333870.1:n.1824+137_1824+139dup
NM_005228.4:c.2625+137_2625+139dup	NP_005219.2:n.2625+137_2625+139dup
NM_005228.5:c.2625+137_2625+139dup MANE Select	NP_005219.2:n.2625+137_2625+139dup
NM_001346897.2:c.2490+137_2490+139dup	NP_001333826.1:n.2490+137_2490+139dup
NM_001346898.2:c.2625+137_2625+139dup	NP_001333827.1:n.2625+137_2625+139dup
NM_001346900.2:c.2466+137_2466+139dup	NP_001333829.1:n.2466+137_2466+139dup
NM_001346941.2:c.1824+137_1824+139dup	NP_001333870.1:n.1824+137_1824+139dup
NM_001346899.2:c.2490+137_2490+139dup	NP_001333828.1:n.2490+137_2490+139dup