Canonical Allele Identifier: CA704725715
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs68024132
gnomAD v4: 14-28768841-G-GCC
MyVariant Identifiers: chr14:g.29238047_29238048insCC (hg19) chr14:g.28768841_28768842insCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768848_28768849dup , CM000676.2:g.28768848_28768849dup GRCh38
NC_000014.8:g.29238054_29238055dup , CM000676.1:g.29238054_29238055dup GRCh37
NC_000014.7:g.28307805_28307806dup NCBI36
NG_009367.1:g.6768_6769dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.*99_*100dup ENSP00000516406.1:n.*99_*100dup
ENST00000313071.7:c.*99_*100dup MANE Select ENSP00000339004.3:n.*99_*100dup
ENST00000313071.6:c.*99_*100dup ENSP00000339004.3:n.*99_*100dup
NM_005249.4:c.*99_*100dup NP_005240.3:n.*99_*100dup
NM_005249.5:c.*99_*100dup MANE Select NP_005240.3:n.*99_*100dup
Search 100 bp 5'
Search 100 bp 3'