Canonical Allele Identifier: CA2580616574
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2102874
ClinVar RCV Id: RCV003019736

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767446_28767451del , CM000676.2:g.28767446_28767451del GRCh38
NC_000014.8:g.29236652_29236657del , CM000676.1:g.29236652_29236657del GRCh37
NC_000014.7:g.28306403_28306408del NCBI36
NG_009367.1:g.5366_5371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.167_172del ENSP00000516406.1:p.His56_His57del
ENST00000313071.7:c.167_172del MANE Select ENSP00000339004.3:p.His56_His57del
ENST00000313071.6:c.167_172del ENSP00000339004.3:p.His56_His57del
NM_005249.4:c.167_172del NP_005240.3:p.His56_His57del
NM_005249.5:c.167_172del MANE Select NP_005240.3:p.His56_His57del