Canonical Allele Identifier: CA2125999239
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108006
ClinVar RCV Id: RCV003017564
dbSNP Id: rs1881791687
gnomAD v4: 14-28767650-TGGGCGGCAAGGGCGAGCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767658_28767675del , CM000676.2:g.28767658_28767675del GRCh38
NC_000014.8:g.29236864_29236881del , CM000676.1:g.29236864_29236881del GRCh37
NC_000014.7:g.28306615_28306632del NCBI36
NG_009367.1:g.5578_5595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.379_396del ENSP00000516406.1:p.Lys127_Gly132del
ENST00000313071.7:c.379_396del MANE Select ENSP00000339004.3:p.Lys127_Gly132del
ENST00000313071.6:c.379_396del ENSP00000339004.3:p.Lys127_Gly132del
NM_005249.4:c.379_396del NP_005240.3:p.Lys127_Gly132del
NM_005249.5:c.379_396del MANE Select NP_005240.3:p.Lys127_Gly132del
Search 100 bp 5'
Search 100 bp 3'