Canonical Allele Identifier: CA613324850
Gene: FOXG1 HGNC NCBI

Linked Data

gnomAD v2: 14-29236619-C-CCCAGCA
gnomAD v4: 14-28767413-C-CCCAGCA
MyVariant Identifiers: chr14:g.29236619_29236620insCCAGCA (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767417_28767422dup , CM000676.2:g.28767417_28767422dup GRCh38
NC_000014.8:g.29236623_29236628dup , CM000676.1:g.29236623_29236628dup GRCh37
NC_000014.7:g.28306374_28306379dup NCBI36
NG_009367.1:g.5337_5342dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.138_143dup ENSP00000516406.1:p.His47_His48insGlnHis
ENST00000313071.7:c.138_143dup MANE Select ENSP00000339004.3:p.His47_His48insGlnHis
ENST00000313071.6:c.138_143dup ENSP00000339004.3:p.His47_His48insGlnHis
NM_005249.4:c.138_143dup NP_005240.3:p.His47_His48insGlnHis
NM_005249.5:c.138_143dup MANE Select NP_005240.3:p.His47_His48insGlnHis
Search 100 bp 5'
Search 100 bp 3'