Canonical Allele Identifier: CA234031
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167090
ClinVar RCV Id: RCV000153263 RCV000187438 RCV000408882 RCV002312991 RCV003235073 RCV003907447
dbSNP Id: rs786200975
gnomAD v2: 14-29236703-A-AGCC
gnomAD v3: 14-28767497-A-AGCC
gnomAD v4: 14-28767497-A-AGCC
MyVariant Identifiers: chr14:g.29236719_29236721dup (hg19) chr14:g.29236719_29236721dupGCC (hg19) chr14:g.29236712_29236713insGCC (hg19) chr14:g.29236706_29236707insGCC (hg19) chr14:g.29236703_29236704insGCC (hg19) chr14:g.28767513_28767515dupGCC (hg38) chr14:g.28767506_28767507insGCC (hg38) chr14:g.28767497_28767498insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767513_28767515dup , CM000676.2:g.28767513_28767515dup GRCh38
NC_000014.8:g.29236719_29236721dup , CM000676.1:g.29236719_29236721dup GRCh37
NC_000014.7:g.28306470_28306472dup NCBI36
NG_009367.1:g.5433_5435dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.234_236dup ENSP00000516406.1:p.Pro79_Pro80insPro
ENST00000313071.7:c.234_236dup MANE Select ENSP00000339004.3:p.Pro79_Pro80insPro
ENST00000313071.6:c.234_236dup ENSP00000339004.3:p.Pro79_Pro80insPro
NM_005249.4:c.234_236dup NP_005240.3:p.Pro79_Pro80insPro
NM_005249.5:c.234_236dup MANE Select NP_005240.3:p.Pro79_Pro80insPro
Search 100 bp 5'
Search 100 bp 3'