Canonical Allele Identifier: CA314584

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205472
• ClinVar RCV Id: RCV000187442 ; RCV003629105
• dbSNP Id: rs796052456
• gnomAD v2: 14-29236866-G-GGGCGAGCCGGGC
• gnomAD v3: 14-28767660-G-GGGCGAGCCGGGC
• gnomAD v4: 14-28767660-G-GGGCGAGCCGGGC
• MyVariant Identifiers: chr14:g.29236871_29236882dupAGCCGGGCGGCG (hg19) ; chr14:g.29236866_29236867insGGCGAGCCGGGC (hg19) ; chr14:g.28767665_28767676dupAGCCGGGCGGCG (hg38) ; chr14:g.28767660_28767661insGGCGAGCCGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767665_28767676dup , CM000676.2:g.28767665_28767676dup	GRCh38
NC_000014.8:g.29236871_29236882dup , CM000676.1:g.29236871_29236882dup	GRCh37
NC_000014.7:g.28306622_28306633dup	NCBI36
NG_009367.1:g.5585_5596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.386_397dup	ENSP00000516406.1:p.Gly132_Gly133insGluProGlyGly
ENST00000313071.7:c.386_397dup MANE Select	ENSP00000339004.3:p.Gly132_Gly133insGluProGlyGly
ENST00000313071.6:c.386_397dup	ENSP00000339004.3:p.Gly132_Gly133insGluProGlyGly
NM_005249.4:c.386_397dup	NP_005240.3:p.Gly132_Gly133insGluProGlyGly
NM_005249.5:c.386_397dup MANE Select	NP_005240.3:p.Gly132_Gly133insGluProGlyGly