Canonical Allele Identifier: CA2580616576
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684751
ClinVar RCV Id: RCV002247843
dbSNP Id: rs796052475
gnomAD v4: 14-28767597-GCCGCCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767606_28767611del , CM000676.2:g.28767606_28767611del GRCh38
NC_000014.8:g.29236812_29236817del , CM000676.1:g.29236812_29236817del GRCh37
NC_000014.7:g.28306563_28306568del NCBI36
NG_009367.1:g.5526_5531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.327_332del ENSP00000516406.1:p.Pro110_Pro111del
ENST00000313071.7:c.327_332del MANE Select ENSP00000339004.3:p.Pro110_Pro111del
ENST00000313071.6:c.327_332del ENSP00000339004.3:p.Pro110_Pro111del
NM_005249.4:c.327_332del NP_005240.3:p.Pro110_Pro111del
NM_005249.5:c.327_332del MANE Select NP_005240.3:p.Pro110_Pro111del
Search 100 bp 5'
Search 100 bp 3'