Canonical Allele Identifier: CA613324855
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1566444899
gnomAD v2: 14-29236635-C-CCACCACCACCAT
gnomAD v4: 14-28767429-C-CCACCACCACCAT
MyVariant Identifiers: chr14:g.29236647_29236648insCACCACCACCAT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767440_28767451dup , CM000676.2:g.28767440_28767451dup GRCh38
NC_000014.8:g.29236646_29236657dup , CM000676.1:g.29236646_29236657dup GRCh37
NC_000014.7:g.28306397_28306408dup NCBI36
NG_009367.1:g.5360_5371dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.161_172dup ENSP00000516406.1:p.His57_Pro58insHisHisHisHis
ENST00000313071.7:c.161_172dup MANE Select ENSP00000339004.3:p.His57_Pro58insHisHisHisHis
ENST00000313071.6:c.161_172dup ENSP00000339004.3:p.His57_Pro58insHisHisHisHis
NM_005249.4:c.161_172dup NP_005240.3:p.His57_Pro58insHisHisHisHis
NM_005249.5:c.161_172dup MANE Select NP_005240.3:p.His57_Pro58insHisHisHisHis
Search 100 bp 5'
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